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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AADACL4	343066	broad.mit.edu	37	1	12726393	12726393	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:12726393C>A	uc001auf.2	+	4	871	c.871C>A	c.(871-873)CCC>ACC	p.P291T		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	291	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGACAACATCCCCAAGAAATT	0.512000													33	60					7.65355e-07	1.2618e-06	0.012213	1	0
MST1P2	11209	broad.mit.edu	37	1	16976805	16976805	+	RNA	SNP	G	A	A	rs1057421	by1000genomes	TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:16976805G>A	uc010och.1	+	14		c.2526G>A			MST1P2_uc001azl.3_RNA|MST1P2_uc009vox.2_RNA|MST1P2_uc001azm.3_RNA	NR_027504				Homo sapiens cDNA FLJ43241 fis, clone HEART1000010, weakly  similar to Hepatocyte growth factor-like protein precursor.												0						ttgtactcaaggctgagattt	0.209000													3	26					0	0	0.004672	0	0
FAM129A	116496	broad.mit.edu	37	1	184853871	184853871	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:184853871A>G	uc001gra.2	-	5	691	c.497T>C	c.(496-498)CTG>CCG	p.L166P	FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	166					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						GGGCTGCCACAGGTACACTGG	0.493000													3	73					0	0	0.004672	0	0
FAM5C	339479	broad.mit.edu	37	1	190067167	190067167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:190067167G>A	uc001gse.1	-	8	2514	c.2282C>T	c.(2281-2283)ACG>ATG	p.T761M	FAM5C_uc010pot.1_Missense_Mutation_p.T659M	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	761						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TAATTTGGTCGTGTCATAATC	0.398000													59	52					0	0	0.014410	0	0
ACBD3	64746	broad.mit.edu	37	1	226349297	226349297	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:226349297C>G	uc001hpy.2	-	4	710	c.663G>C	c.(661-663)AGG>AGC	p.R221S		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	221	Arg-rich.|Potential.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cccgtcgaagcctttcctctt	0.104000													13	4					0	0	0.013537	0	0
RYR2	6262	broad.mit.edu	37	1	237777500	237777500	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:237777500A>G	uc001hyl.1	+	37	5192	c.5072A>G	c.(5071-5073)AAC>AGC	p.N1691S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1691	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCATTGAGAACAAGTACATG	0.562000													23	27					0	0	0.012319	0	0
FMN2	56776	broad.mit.edu	37	1	240255958	240255958	+	Silent	SNP	C	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:240255958C>A	uc010pyd.1	+	1	774	c.549C>A	c.(547-549)ATC>ATA	p.I183I	FMN2_uc010pye.1_Silent_p.I183I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	183					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACACGGACATCTATAGCTTCC	0.512000													25	43					8.16721e-17	1.42343e-16	0.010818	1	0
MYO3A	53904	broad.mit.edu	37	10	26465722	26465722	+	Silent	SNP	C	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr10:26465722C>T	uc001isn.2	+	31	4746	c.4386C>T	c.(4384-4386)GTC>GTT	p.V1462V	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1462					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						ATCTGGGTGTCTCGCACCATA	0.368000													6	76					0	0	0.003080	0	0
MYO3A	53904	broad.mit.edu	37	10	26465754	26465754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr10:26465754C>T	uc001isn.2	+	31	4778	c.4418C>T	c.(4417-4419)TCT>TTT	p.S1473F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1473					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGACGAGTTTCTTCTCAGCAG	0.378000													5	75					0	0	0.001984	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793256	124793256	+	Silent	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr11:124793256G>A	uc001qbk.2	-	4	1189	c.783C>T	c.(781-783)GCC>GCT	p.A261A	HEPACAM_uc009zbj.2_5'UTR|HEPACAM_uc001qbl.1_Silent_p.A261A	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	261	Helical; (Potential).				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GTTTCCAGCAGGCACAGACTG	0.483000													54	66					0	0	0.014410	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962013	10962013	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr12:10962013T>C	uc001qyx.2	-	1	755	c.662A>G	c.(661-663)GAC>GGC	p.D221G	TAS2R8_uc010shh.1_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	221	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						TGTACTGGGGTCTCTGAACCC	0.468000													25	27					0	0	0.004656	0	0
LOC284232	284232	broad.mit.edu	37	13	19415742	19415742	+	RNA	SNP	T	C	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:19415742T>C	uc010tcj.1	-	1		c.30368A>G				NR_027995				Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.												0						GCTGTTTTCCTAATCTTTCTT	0.313000													3	32					0	0	0.004672	0	0
CAB39L	81617	broad.mit.edu	37	13	49906228	49906228	+	Splice_Site	SNP	T	C	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:49906228T>C	uc001vcw.2	-	8	1189	c.691_splice	c.e8-1	p.L231_splice	CAB39L_uc001vcx.2_Splice_Site_p.L231_splice|CAB39L_uc010adf.2_Splice_Site_p.L228_splice	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like						cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CCCTAGCAGCTAGAGGAAAAC	0.428000													22	43					0	0	0.014323	0	0
MCF2L	23263	broad.mit.edu	37	13	113719307	113719307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:113719307G>A	uc001vsu.2	+	7	857	c.835G>A	c.(835-837)GGG>AGG	p.G279R	MCF2L_uc001vsq.2_Missense_Mutation_p.G279R|MCF2L_uc010tjr.1_Missense_Mutation_p.G222R|MCF2L_uc001vsr.2_Missense_Mutation_p.G226R|MCF2L_uc001vss.3_Missense_Mutation_p.G220R|MCF2L_uc010tjs.1_Missense_Mutation_p.G220R|MCF2L_uc001vst.1_Missense_Mutation_p.G184R	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	252					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCAGTCCTTCGGGACCGAGCT	0.552000													20	10					0	0	0.008871	0	0
ADAM6	8755	broad.mit.edu	37	14	106329439	106329439	+	RNA	SNP	C	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:106329439C>A	uc010tyt.1	-	3592		c.54470G>T			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Missense_Mutation_p.W4C|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Missense_Mutation_p.W4C|uc001ysk.1_Missense_Mutation_p.W4C|uc001ysl.1_Missense_Mutation_p.W4C|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0						TCCCTTTGCCCCAGACGTCCA	0.537000													3	8					0.004672	0.00730749	0.004672	1	0
ADAM6	8755	broad.mit.edu	37	14	106812249	106812249	+	RNA	SNP	A	C	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:106812249A>C	uc010tyt.1	-	352		c.13529T>G								Parts of antibodies, mostly variable regions.												0						CCTTGCCTGGAGACTGGTGAA	0.488000													2	1					0	0	0.004672	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84539649	84539649	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr15:84539649A>G	uc002bjz.3	+	9	1122	c.898A>G	c.(898-900)AGG>GGG	p.R300G	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R300G|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R300G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	300						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAATTTCAGAGGGGCTCCGA	0.418000													3	55					0	0	0.004672	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	A	A	rs114681793	by1000genomes	TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr16:22441236G>A	uc002dkp.2	-	5		c.1170C>T			RRN3P3_uc010vbu.1_RNA	NR_027460				Homo sapiens cDNA FLJ31180 fis, clone KIDNE2000266.												0						TGTTCCTCTCGATGATGGTGT	0.507000													4	29					0	0	0.014758	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409032	79409032	+	Silent	SNP	C	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr17:79409032C>T	uc002kaf.2	+	3	657	c.657C>T	c.(655-657)CTC>CTT	p.L219L	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	219							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCGCTTCCTCGTGGGCAAAG	0.706000													4	29					0	0	0.014758	0	0
PELI1	57162	broad.mit.edu	37	2	64321985	64321985	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr2:64321985C>G	uc002scs.3	-	6	5147	c.1108G>C	c.(1108-1110)GTG>CTG	p.V370L	PELI1_uc002sct.3_Missense_Mutation_p.V370L|PELI1_uc002scr.3_Missense_Mutation_p.V191L	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	370					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						TCTGAACACACATGCCCACAC	0.512000													3	46					0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166866263	166866263	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr2:166866263G>T	uc010zcz.1	-	20	3953	c.3935C>A	c.(3934-3936)CCT>CAT	p.P1312H	SCN1A_uc002udo.3_Missense_Mutation_p.P1192H|SCN1A_uc010fpk.2_Missense_Mutation_p.P1164H	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1323	Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCTCTTAGAGGTCTCAGAGC	0.373000													13	25					6.72482e-11	1.13948e-10	0.003163	1	0
TTN	7273	broad.mit.edu	37	2	179613495	179613495	+	Silent	SNP	G	A	A	rs146750710	by1000genomes	TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr2:179613495G>A	uc002unb.2	-	46	13856	c.13632C>T	c.(13630-13632)GAC>GAT	p.D4544D	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTGTGCGTCAAATTCTT	0.328000													17	27					0	0	0.006122	0	0
GMPPB	29925	broad.mit.edu	37	3	49759540	49759540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:49759540G>A	uc003cxk.1	-	8	1034	c.809C>T	c.(808-810)CCC>CTC	p.P270L	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.P270L	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	270					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCACATTGGGGCCAATGCT	0.602000													19	38					0	0	0.012319	0	0
GRK7	131890	broad.mit.edu	37	3	141497272	141497272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:141497272G>A	uc011bnd.1	+	1	230	c.146G>A	c.(145-147)CGC>CAC	p.R49H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	49					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GCGGAGCTCCGCCAGAAGCTG	0.682000													15	10					0	0	0.004007	0	0
PDGFC	56034	broad.mit.edu	37	4	157688986	157688986	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr4:157688986C>G	uc003iph.1	-	5	1351	c.860G>C	c.(859-861)TGT>TCT	p.C287S	PDGFC_uc003ipi.1_Missense_Mutation_p.C124S|PDGFC_uc011cis.1_Missense_Mutation_p.C124S|PDGFC_uc011cir.1_Missense_Mutation_p.C131S	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	287					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATTGTGGAGACAACAGGCACA	0.418000													21	33					0	0	0.012319	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274753	160274753	+	Silent	SNP	T	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr4:160274753T>A	uc003iqg.3	+	22	4033	c.3723T>A	c.(3721-3723)GCT>GCA	p.A1241A		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1241					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CACTTGATGCTGCTGACAGTG	0.537000													41	68					0	0	0.013114	0	0
AMACR	23600	broad.mit.edu	37	5	33989591	33989591	+	Silent	SNP	A	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:33989591A>T	uc003jig.2	-	5	838	c.756T>A	c.(754-756)TCT>TCA	p.S252S	AMACR_uc003jih.2_Nonstop_Mutation_p.*199R|AMACR_uc003jii.2_Silent_p.S237S|AMACR_uc003jij.2_Silent_p.S252S	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	252					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						GAAGTTCATCAGACTTTAGTC	0.373000													7	16					0	0	0.004482	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965978	35965978	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:35965978C>A	uc003jjv.1	-	4	510	c.353G>T	c.(352-354)GGG>GTG	p.G118V	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.G118V|UGT3A1_uc011cor.1_Missense_Mutation_p.G84V|UGT3A1_uc003jjy.1_Missense_Mutation_p.G64V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	118	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATTGAGTCCCAAATATTTC	0.289000													7	24					0.000157383	0.000252642	0.003080	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41038885	41038885	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41038885G>C	uc003jmj.3	-	21	2657	c.2167C>G	c.(2167-2169)CAA>GAA	p.Q723E	HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q278E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	723							binding			ovary(6)|central_nervous_system(2)	8						ATGATATCTTGATTAAGTCTG	0.483000													10	43					0	0	0.008291	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038949	41038949	+	Silent	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41038949G>A	uc003jmj.3	-	21	2593	c.2103C>T	c.(2101-2103)GTC>GTT	p.V701V	HEATR7B2_uc003jmi.3_Silent_p.V256V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	701							binding			ovary(6)|central_nervous_system(2)	8						AGATGACCATGACATCTGTCT	0.453000													9	46					0	0	0.008291	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41039647	41039647	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41039647G>C	uc003jmj.3	-	20	2454	c.1964C>G	c.(1963-1965)TCT>TGT	p.S655C	HEATR7B2_uc003jmi.3_Missense_Mutation_p.S210C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	655							binding			ovary(6)|central_nervous_system(2)	8						TCCTAAAATAGATGTTATTCC	0.224000													3	14					0	0	0.004672	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058209	41058209	+	Silent	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41058209G>A	uc003jmj.3	-	7	1202	c.712C>T	c.(712-714)CTG>TTG	p.L238L	HEATR7B2_uc003jmi.3_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	238	HEAT 2.						binding			ovary(6)|central_nervous_system(2)	8						TACTGGTTCAGGAGCCAGGGC	0.547000													14	29					0	0	0.004007	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:99715528C>T	uc011cuw.1	-	4		c.382G>A				NR_027503				Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.												0						AGCGGACAGTCGAAGCCCTTC	0.607000													4	5					0	0	0.009096	0	0
MIR886	100126299	broad.mit.edu	37	5	135416237	135416237	+	RNA	SNP	A	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:135416237A>T	hsa-mir-886|MI0005527	-			c.61A>T																				0						AGAGATGGACAGATAGAAAGT	0.478000													7	20					0	0	0.001984	0	0
PTK7	5754	broad.mit.edu	37	6	43098054	43098054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr6:43098054C>T	uc003oub.1	+	4	755	c.557C>T	c.(556-558)ACG>ATG	p.T186M	PTK7_uc003ouc.1_Missense_Mutation_p.T186M|PTK7_uc003oud.1_Missense_Mutation_p.T186M|PTK7_uc003oue.1_Missense_Mutation_p.T186M|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_Intron|PTK7_uc011dve.1_Missense_Mutation_p.T194M|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Missense_Mutation_p.T186M	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	186	Ig-like C2-type 2.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGGAACCTGACGCTCCGGCCA	0.592000													20	34					0	0	0.010504	0	0
FAM48B2	170067	broad.mit.edu	37	X	24329526	24329526	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chrX:24329526A>G	uc011mjw.1	-	1	1907	c.1907T>C	c.(1906-1908)CTT>CCT	p.L636P		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	636											0						GAAAAACTGAAGGGGTGCTGG	0.612000													3	39					0	0	0.004672	0	0
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	-	-	rs67610340		TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:55505553_55505555delCTG	uc001cyf.1	+	1	334_336	c.43_45delCTG	c.(43-45)CTGdel	p.L23del	PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						gccgctgccactgctgctgctgc	0.581													13	159	---	---	---	---					
NTRK1	4914	broad.mit.edu	37	1	156838323	156838323	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:156838323delC	uc001fqh.1	+	6	657	c.601delC	c.(601-603)CCCfs	p.P201fs	NTRK1_uc001fqf.1_Frame_Shift_Del_p.P171fs|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Frame_Shift_Del_p.P201fs|NTRK1_uc009wsk.1_Frame_Shift_Del_p.P201fs	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	201	Ig-like C2-type 1.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGTCCAGGTGCCCAATGCCTC	0.692			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			2	4	---	---	---	---					
EVL	51466	broad.mit.edu	37	14	100594926	100594927	+	Frame_Shift_Ins	INS	-	C	C	rs150744633		TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:100594926_100594927insC	uc001ygt.2	+	6	791_792	c.552_553insC	c.(550-555)CCGCCCfs	p.P184fs	EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs|EVL_uc001ygu.2_Frame_Shift_Ins_p.P186fs|EVL_uc010avu.2_Frame_Shift_Ins_p.P43fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	184_185	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.535													6	11	---	---	---	---					
PRSS50	29122	broad.mit.edu	37	3	46759228	46759229	+	In_Frame_Ins	INS	-	AGC	AGC	rs143449678	by1000genomes	TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:46759228_46759229insAGC	uc003cqe.1	-	1	145_146	c.86_87insGCT	c.(85-87)CTT>CTGCTT	p.29_29L>LL	PRSS50_uc003cqf.1_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	29					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						TCAGCAACAGAAGCAGCAGCAG	0.728													4	4	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	TGC	TGC			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr6:16327864_16327865insTGC	uc003nbt.2	-	8	1648_1649	c.677_678insGCA	c.(676-678)CAC>CAGCAC	p.225_226insQ	ATXN1_uc010jpi.2_In_Frame_Ins_p.225_226insQ|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	225_226					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.366													5	7	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	-	-	rs62565543		TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr9:40715923_40715924delAA	uc010mmk.2	+	1		c.400_401delAA				NR_026801				Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											skin(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													3	3	---	---	---	---					
