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
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr12:10962013T>C	uc001qyx.3	-	0	755	c.662A>G	c.(661-663)gAc>gGc	p.D221G	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	221					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTACTGGGGTCTCTGAACCC	0.468000														27			25		0	0	0.024334	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41038949G>A	uc003jmj.4	-	20	2593	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	HEATR7B2_uc003jmi.4_Silent_p.V256V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	701							binding	p.D700Y(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGATGACCATGACATCTGTCT	0.453000														46			9		0	0	0.008291	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:49906228T>C	uc001vcw.3	-	8	1189	c.691_splice	c.e8-1	p.L231_splice	CAB39L_uc001vcx.3_Splice_Site_p.L231_splice|CAB39L_uc010adf.3_Splice_Site_p.L228_splice	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	231					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		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														43			22		0	0	0.014323	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:141497272G>A	uc011bnd.2	+	0	230	c.146G>A	c.(145-147)cGc>cAc	p.R49H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	49					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCGGAGCTCCGCCAGAAGCTG	0.682000														10			15		0	0	0.028581	0	0
VTRNA2-1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:135416237A>T	uc021ydy.1	-	0		c.50T>A								Homo sapiens vault RNA 2-1 (VTRNA2-1), vault RNA.																		AGAGATGGACAGATAGAAAGT	0.478000														20			7		0	0	0.001984	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr17:79409032C>T	uc002kaf.2	+	3	471	c.471C>T	c.(469-471)ctC>ctT	p.L157L	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	219							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	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														29			4		0	0	0.014758	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr6:43098054C>T	uc011dve.1	+	3	623	c.581C>T	c.(580-582)aCg>aTg	p.T194M	PTK7_uc003oub.1_Missense_Mutation_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_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.T186M	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	186	Ig-like C2-type 2.				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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			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														34			20		0	0	0.010504	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:49759540G>A	uc003cxl.1	-	7	1034	c.809C>T	c.(808-810)cCc>cTc	p.P270L	AMIGO3_uc003cxj.3_5'Flank|GMPPB_uc003cxk.1_Missense_Mutation_p.P270L	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	270					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCACATTGGGGCCAATGCT	0.602000														38			19		0	0	0.012319	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41039647G>C	uc003jmj.4	-	19	2454	c.1964C>G	c.(1963-1965)tCt>tGt	p.S655C	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S210C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	655							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCCTAAAATAGATGTTATTCC	0.303000														14			3		0	0	0.004672	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr4:157688986C>G	uc003iph.2	-	4	1351	c.860G>C	c.(859-861)tGt>tCt	p.C287S	PDGFC_uc003ipi.2_Missense_Mutation_p.C124S|PDGFC_uc011cis.2_Missense_Mutation_p.C124S|PDGFC_uc011cir.2_Missense_Mutation_p.C131S	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	287					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	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														33			21		0	0	0.012319	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000														29			4		0	0	0.014758	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr2:166866263G>T	uc002udo.4	-	21	4195	c.3968C>A	c.(3967-3969)cCt>cAt	p.P1323H	SCN1A_uc010fpk.3_Missense_Mutation_p.P1295H|SCN1A_uc021vsb.1_Missense_Mutation_p.P1312H	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1323						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCTCTTAGAGGTCTCAGAGC	0.373000														25			13		6.72482e-11	1.05183e-10	0.024245	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														5			4		0	0	0.009096	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr11:124793256G>A	uc001qbk.3	-	3	1189	c.783C>T	c.(781-783)gcC>gcT	p.A261A	HEPACAM_uc009zbj.3_5'UTR|HEPACAM_uc001qbl.1_Silent_p.A261A	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	261					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	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														66			54		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000														44			4		0	0	0.009096	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41058209G>A	uc003jmj.4	-	6	1202	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Silent_p.L238L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	238							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TACTGGTTCAGGAGCCAGGGC	0.547000														29			14		0	0	0.028581	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41038885G>C	uc003jmj.4	-	20	2657	c.2167C>G	c.(2167-2169)Caa>Gaa	p.Q723E	HEATR7B2_uc003jmi.4_Missense_Mutation_p.Q278E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	723							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATGATATCTTGATTAAGTCTG	0.483000														43			10		0	0	0.008291	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	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														56			7		0	0	0.006214	0	0
IGHE	3497	broad.mit.edu	37	14	106329439	106329439	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:106329439C>A	uc001yrw.1	-	0	24	c.12G>T	c.(10-12)tgG>tgT	p.W4C	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_Missense_Mutation_p.W4C|IGHE_uc001ysk.1_Missense_Mutation_p.W4C|IGHE_uc001ysl.1_Missense_Mutation_p.W4C|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron|abParts_uc021set.1_5'Flank					RecName: Full=Ig epsilon chain C region;																		TCCCTTTGCCCCAGACGTCCA	0.537000														10			3		0.004672	0.00678552	0.004672	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:190067167G>A	uc001gse.1	-	7	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	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	761						extracellular region		p.T761R(2)|p.T761T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TAATTTGGTCGTGTCATAATC	0.398000														52			59		0	0	0.014410	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr10:26465722C>T	uc001isn.2	+	30	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	Homo sapiens myosin IIIA (MYO3A), mRNA.	1462					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.G1461G(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCTGGGTGTCTCGCACCATA	0.368000														76			6		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	14	106812249	106812249	+	Splice_Site	SNP	A	C	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:106812249A>C	uc021ser.1	-	566		c.16076_splice	c.e566-1							Parts of antibodies, mostly variable regions.																		CCTTGCCTGGAGACTGGTGAA	0.488000														1			2		0	0	0.004672	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:113719307G>A	uc001vsu.3	+	6	835	c.835G>A	c.(835-837)Ggg>Agg	p.G279R	MCF2L_uc001vsq.3_Missense_Mutation_p.G279R|MCF2L_uc010tjr.2_Missense_Mutation_p.G222R|MCF2L_uc001vsr.3_Missense_Mutation_p.G226R|MCF2L_uc001vss.4_Missense_Mutation_p.G220R|MCF2L_uc010tjs.2_Missense_Mutation_p.G220R|MCF2L_uc001vst.1_Missense_Mutation_p.G184R	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	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			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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														10			20		0	0	0.008871	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:16976805G>A	uc010och.2	+	13		c.2526G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		ttgtactcaaggctgagattt	0.383000														26			3		0	0	0.004672	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:33989591A>T	uc003jij.3	-	4	852	c.756T>A	c.(754-756)tcT>tcA	p.S252S	AMACR_uc003jig.3_Silent_p.S252S|AMACR_uc003jih.3_Nonstop_Mutation_p.*199R	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	252					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GAAGTTCATCAGACTTTAGTC	0.373000														16			7		0	0	0.004482	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr4:160274753T>A	uc003iqg.4	+	21	4033	c.3723T>A	c.(3721-3723)gcT>gcA	p.A1241A		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1241					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CACTTGATGCTGCTGACAGTG	0.537000														68			41		0	0	0.013114	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr10:26465754C>T	uc001isn.2	+	30	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	Homo sapiens myosin IIIA (MYO3A), mRNA.	1473					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACGAGTTTCTTCTCAGCAG	0.378000														75			5		0	0	0.001984	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118358	118358	+	RNA	SNP	A	G	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chrGL000205.1:118358A>G	uc002kgk.4	+	0		c.1736A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCCAGGGAAGACATCATCCCT	0.557000														33			5		0	0	0.014758	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:237777500A>G	uc001hyl.1	+	36	5192	c.5072A>G	c.(5071-5073)aAc>aGc	p.N1691S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1691	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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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														27			23		0	0	0.012319	0	0
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:12726393C>A	uc001auf.3	+	3	871	c.871C>A	c.(871-873)Ccc>Acc	p.P291T		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	291						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	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														60			33		7.65355e-07	1.16717e-06	0.012213	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:226349297C>G	uc001hpy.3	-	3	710	c.663G>C	c.(661-663)agG>agC	p.R221S		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	221	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cccgtcgaagcctttcctctt	0.463000														4			13		0	0	0.013537	0	0
ANKRD20A9P	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:19415742T>C	uc010tcj.1	-	0		c.30368A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCTGTTTTCCTAATCTTTCTT	0.338000														32			3		0	0	0.004672	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:240255958C>A	uc010pye.2	+	0	774	c.549C>A	c.(547-549)atC>atA	p.I183I	FMN2_uc010pyd.2_Silent_p.I183I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	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			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACACGGACATCTATAGCTTCC	0.632000														43			25		8.16721e-17	1.31105e-16	0.010818	1	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:35965978C>A	uc003jjv.2	-	3	546	c.353G>T	c.(352-354)gGg>gTg	p.G118V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G118V|UGT3A1_uc011cor.2_Missense_Mutation_p.G84V|UGT3A1_uc003jjy.2_Missense_Mutation_p.G64V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	118						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATTGAGTCCCAAATATTTC	0.294000														24			7		0.000157383	0.000234156	0.003080	1	0
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:156838323delC	uc001fqh.1	+	5	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	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	201	Ig-like C2-type 1.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	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)			---	4	---	---	2	---					
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:46759228_46759229insAGC	uc003cqe.1	-	0	568_569	c.86_87insGCT	c.(85-87)ctt>ctGCTt	p.29_29L>LL	PRSS50_uc021wxe.1_In_Frame_Ins_p.29_29L>LL|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	29					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.L32_R33insL(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr6:16327864_16327865insTGC	uc003nbt.3	-	7	1648_1649	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_uc010jpi.3_In_Frame_Ins_p.225_226insQ|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	225	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653													---	7	---	---	5	---					
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr9:40715923_40715924delAA	uc010mmk.2	+	0		c.400_401delAA								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													---	3	---	---	3	---					
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:100594926_100594927insC	uc001ygu.3	+	5	645_646	c.558_559insC	c.(556-561)ccgcccfs	p.P186fs	EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	184	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.688													---	11	---	---	6	---					
