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
DLG2	1740	broad.mit.edu	37	11	83243769	83243769	+	Silent	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:83243769T>C	uc001paj.2	-	15	2163	c.1860A>G	c.(1858-1860)ggA>ggG	p.G620G	DLG2_uc001pai.2_Silent_p.G517G|DLG2_uc010rsy.1_Silent_p.G587G|DLG2_uc021qof.1_Silent_p.G659G|DLG2_uc010rsz.1_Silent_p.G620G|DLG2_uc010rta.1_Silent_p.G620G|DLG2_uc001pak.2_Silent_p.G725G|DLG2_uc010rtb.1_Silent_p.G587G|DLG2_uc010rsx.1_Silent_p.G101G|DLG2_uc010rsw.1_Silent_p.G102G	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	620						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCAATCACTCCAGGTTTGG	0.398000													40	57					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196684882	196684882	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:196684882A>G	uc001gtj.4	+	10	1919	c.1679A>G	c.(1678-1680)gAt>gGt	p.D560G	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	560	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTGGTCTGATTTACCCATA	0.328000													15	137					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117350	117350	+	RNA	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrGL000205.1:117350C>A	uc002kgk.4	+	0		c.728C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCACCTGGCCTTCTGTGAG	0.577000													5	52					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75150998	75150998	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:75150998G>A	uc001owo.4	-	15	2019	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	GDPD5_uc001owp.4_Silent_p.D494D|GDPD5_uc001own.4_Silent_p.D249D|GDPD5_uc009yuc.3_Silent_p.D356D|GDPD5_uc009yud.3_Silent_p.D375D	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	494					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GACAGTACTCGTCCGGGGGCT	0.602000													35	62					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601138	86601138	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:86601138C>T	uc002fjq.3	+	0	282	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	66					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAGCCCGCGGCGCCTAAGGAC	0.657000									Late-onset Hereditary Lymphedema				21	48					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188327155	188327155	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:188327155G>T	uc003frs.2	+	5	882	c.636G>T	c.(634-636)acG>acT	p.T212T	LPP_uc011bsg.2_Silent_p.T212T|LPP_uc011bsi.2_Silent_p.T212T|LPP_uc003frt.3_Silent_p.T212T|LPP_uc011bsj.2_Silent_p.T49T	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	212	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCTACACCACGGCCTCCACTT	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								40	70					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63336341	63336341	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:63336341A>G	uc002alm.3	+	2	547	c.356A>G	c.(355-357)aAg>aGg	p.K119R	TPM1_uc002alg.3_Missense_Mutation_p.K77R|TPM1_uc002alh.3_Missense_Mutation_p.K77R|TPM1_uc002ali.3_Missense_Mutation_p.K77R|TPM1_uc002alj.3_Intron|TPM1_uc002alk.3_Missense_Mutation_p.K77R|TPM1_uc002all.3_Intron|TPM1_uc010uie.2_Intron|TPM1_uc002alp.3_Missense_Mutation_p.K77R	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	77					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GCAGAGAAAAAGGCCACCGAT	0.542000													3	78					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897613	175897613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr4:175897613T>C	uc003iuc.3	+	4	1607	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	ADAM29_uc003iud.3_Missense_Mutation_p.C313R|ADAM29_uc010irr.3_Missense_Mutation_p.C313R|ADAM29_uc011cki.2_Missense_Mutation_p.C313R|ADAM29_uc021xuo.1_Missense_Mutation_p.C313R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	313	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCGTAGTTGTGCAATTGT	0.418000													40	90					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81648693	81648693	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:81648693C>A	uc001szl.1	+	15	2144	c.2053C>A	c.(2053-2055)Caa>Aaa	p.Q685K	ACSS3_uc001szm.1_Missense_Mutation_p.Q684K|ACSS3_uc001szn.1_Missense_Mutation_p.Q367K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	685						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AATGCTGAAGCAAGCATAATG	0.303000													3	62					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126590	31126590	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:31126590C>T	uc003tca.2	+	10	1146	c.857C>T	c.(856-858)aCg>aTg	p.T286M	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.T286M|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.T286M|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.T265M|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.T286M|ADCYAP1R1_uc003tcf.1_5'UTR	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	286					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTGGGCTACGCTGAGACTC	0.512000													56	94					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419969	19419969	+	RNA	SNP	T	T	C	rs76149397		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr13:19419969T>C	uc010tcj.1	-	0		c.26141A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GACAAATTCATTGGTTTAGTT	0.303000													8	55					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43097526	43097526	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:43097526G>C	uc011dve.1	+	2	495	c.453G>C	c.(451-453)caG>caC	p.Q151H	PTK7_uc003oub.1_Missense_Mutation_p.Q143H|PTK7_uc003ouc.1_Missense_Mutation_p.Q143H|PTK7_uc003oud.1_Missense_Mutation_p.Q143H|PTK7_uc003oue.1_Missense_Mutation_p.Q143H|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.Q143H	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	143	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)			TCCAGCCACAGACCCAGGTCA	0.592000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	78					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89391173	89391173	+	Missense_Mutation	SNP	G	G	A	rs62640041		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:89391173G>A	uc010upo.1	+	8	2010	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	ACAN_uc002bmx.3_Missense_Mutation_p.V546M|ACAN_uc010upp.1_Missense_Mutation_p.V546M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	546					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCCCATGCGTGGGTGACAA	0.592000													10	76					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38158190	38158190	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr13:38158190G>T	uc001uwo.4	-	8	1277	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	POSTN_uc001uwp.4_Missense_Mutation_p.L387I|POSTN_uc001uwr.3_Missense_Mutation_p.L387I|POSTN_uc001uwq.3_Missense_Mutation_p.L387I|POSTN_uc010teu.1_Missense_Mutation_p.L387I|POSTN_uc010tev.1_Missense_Mutation_p.L387I|POSTN_uc010tew.1_Missense_Mutation_p.L387I|POSTN_uc010tex.1_Missense_Mutation_p.L302I	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	387	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.D386G(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGGCCACAAGATCCGTGAAG	0.438000													12	34					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52779274	52779274	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779274C>T	uc002xwv.2	-	6	1370	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CYP24A1_uc002xwu.1_Silent_p.Q182Q|CYP24A1_uc002xww.2_Silent_p.Q324Q	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGCAGCCAGCTGGAGCTCTG	0.418000													8	59					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1709962	1709962	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709962A>G	uc010uvh.2	+	9	2311	c.2311A>G	c.(2311-2313)Aag>Gag	p.K771E	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	771						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCCCCCAGGGAAGGTGGTGAC	0.637000													18	34					0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125233565	125233565	+	RNA	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:125233565G>T	uc003pzq.3	-	6		c.1169C>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		TTTTCTAATGGCTATCTTGTT	0.378000			T	ETV6	B-ALL								7	45					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37280709	37280709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:37280709G>A	uc002rpp.1	-	16	2537	c.2441C>T	c.(2440-2442)gCt>gTt	p.A814V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	814							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACACCTTTAGCTTGTTTAAC	0.318000													12	36					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	40503085	40503085	+	Silent	SNP	A	A	G	rs139489532	by1000genomes	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:40503085A>G	uc004abr.1	-	5	840	c.597T>C	c.(595-597)acT>acC	p.T199T				Q96NU0	CNT3B_HUMAN	RecName: Full=Contactin-associated protein-like 3B; AltName: Full=Cell recognition molecule Caspr3b; Flags: Precursor;	287	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GTTTGTCCACAGTGAAGTTGA	0.443000													3	45					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122779772	122779772	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:122779772C>T	uc003pyy.1	-	1	164	c.94G>A	c.(94-96)Gga>Aga	p.G32R		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	Homo sapiens serine incorporator 1 (SERINC1), mRNA.	32					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTTGTTTCCACTAGGACAG	0.373000													53	108					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5964711	5964711	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:5964711G>A	uc001alq.2	-	15	2377	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	703					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.I702V(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCACAGGCACGAGGATGTGGG	0.572000													22	43					0	0	1	0	0
CBLN1	869	broad.mit.edu	37	16	49314902	49314902	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:49314902C>A	uc002efq.3	-	1	682	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S		NM_004352	NP_004343	P23435	CBLN1_HUMAN	Homo sapiens cerebellin 1 precursor (CBLN1), mRNA.	106	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TTGCGCGGGGCGATGAAAGTG	0.542000													30	57					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32145945	32145945	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:32145945C>A	uc002rnx.3	-	3	629	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	MEMO1_uc010ymu.2_Missense_Mutation_p.V60L|MEMO1_uc010ezq.3_Missense_Mutation_p.V83L|MEMO1_uc002rny.3_Non-coding_Transcript|MEMO1_uc002rnz.3_Non-coding_Transcript|MEMO1_uc010ymv.1_Non-coding_Transcript	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN	Homo sapiens mediator of cell motility 1 (MEMO1), transcript variant 1, mRNA.	83					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAGAGGGGCACATGATGAGAA	0.373000													31	69					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983190	140983190	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:140983190C>A	uc011mwp.2	+	4	1045	c.1045C>A	c.(1045-1047)Caa>Aaa	p.Q349K	MAGEC3_uc004fbs.3_5'UTR|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	349	MAGE 1.							p.Q349L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAATCCTCAAGGTAAGGG	0.577000													45	27					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1709961	1709961	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709961G>A	uc010uvh.2	+	9	2310	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	770						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGCCCCCAGGGAAGGTGGTGA	0.637000													18	35					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52498074	52498074	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:52498074A>T	uc002pyf.2	-	6	605	c.288T>A	c.(286-288)gaT>gaA	p.D96E	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.D85E|ZNF615_uc002pyh.2_Missense_Mutation_p.D96E|ZNF615_uc010epi.2_Missense_Mutation_p.D92E|ZNF615_uc002pyg.2_5'UTR|ZNF615_uc010ydg.2_Missense_Mutation_p.D90E	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGAGGATCATCAATTTTCC	0.328000													6	37					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747555	68747555	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:68747555G>A	uc010rqf.2	-	0	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	301						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCCTCGCGAAGCGCCTGT	0.677000													14	33					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:3427765G>C	uc010qxs.1	+	8		c.758G>C			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CACACGTCCTGCAGTGGCCTG	0.602000													4	107					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69741780	69741780	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:69741780C>G	uc002sfp.2	-	12	2104	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	AAK1_uc010fdk.2_Missense_Mutation_p.Q533H|AAK1_uc010yqm.1_Missense_Mutation_p.Q533H	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	533	Gln-rich.		Q -> H.			coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						gctgctgctgctgGTAGAAAT	0.532000													3	31					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158697	58158697	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:58158697A>G	uc001spz.1	-	4	955	c.803T>C	c.(802-804)gTg>gCg	p.V268A	CYP27B1_uc001sqa.1_Missense_Mutation_p.V33A|CYP27B1_uc001sqb.1_Silent_p.R148R|CYP27B1_uc001sqc.1_Silent_p.R148R	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	268					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TCGCCGCTCCACGTGCCTCTG	0.607000													41	84					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30737631	30737631	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:30737631G>C	uc022buj.1	+	15	1330	c.1151_splice	c.e15+1	p.G384_splice	GK_uc004dch.4_Splice_Site_p.G384_splice|GK_uc010ngj.3_Splice_Site_p.G378_splice|GK_uc004dci.4_Splice_Site_p.G378_splice|GK_uc011mjz.2_Splice_Site_p.G179_splice|GK_uc011mka.2_Splice_Site_p.G221_splice|GK_uc010ngk.3_Splice_Site_p.G173_splice	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	384					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CAGCGCAAGAGGGTAAGTATT	0.353000													29	15					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778604	18778604	+	RNA	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:18778604G>A	uc011ago.1	-	1		c.216C>T			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		TGGCATCCGCGGCCACGGCAG	0.622000													7	15					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7894923	7894923	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:7894923G>A	uc002wmw.1	-	2	457	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	HAO1_uc010gbu.3_Missense_Mutation_p.R145W	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	145	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTGCCTGCCGCACTAGCTTC	0.517000													23	67					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90252885	90252885	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:90252885C>T	uc004apc.3	+	3	450	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK1_uc004ape.3_Silent_p.F104F|DAPK1_uc004apd.3_Silent_p.F104F|DAPK1_uc011ltg.2_Silent_p.F104F|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	104	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTTTGACTTCTTAGCTGAAA	0.418000									Chronic Lymphocytic Leukemia, Familial Clustering of				8	93					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23264762	23264762	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:23264762G>A	uc021wml.1	+	446		c.18233_splice	c.e446-2							Parts of antibodies, mostly variable regions.																		CATCCACCCCGCAGGTCAGCC	0.622000													11	118					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23587880	23587880	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:23587880G>A	uc001wiv.2	-	0	941	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGGTACTGCAGGGGATTGTAG	0.677000													15	21					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52430809	52430809	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:52430809A>T	uc011bef.2	+	71	11867	c.11606A>T	c.(11605-11607)tAc>tTc	p.Y3869F	DNAH1_uc003ddv.3_Missense_Mutation_p.Y727F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3934	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACATCCCCTACAAGGTGGGC	0.597000													80	197					0	0	1	0	0
STK35	140901	broad.mit.edu	37	20	2097968	2097968	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:2097968C>T	uc002wfw.4	+	2	1549	c.1549C>T	c.(1549-1551)Cgg>Tgg	p.R517W	STK35_uc010zpu.2_Intron	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	517	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCACAGGACCGGCCTGATGC	0.473000													14	93					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52779277	52779277	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779277G>T	uc002xwv.2	-	6	1367	c.969C>A	c.(967-969)ctC>ctA	p.L323L	CYP24A1_uc002xwu.1_Silent_p.L181L|CYP24A1_uc002xww.2_Silent_p.L323L	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	323					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGCCAGCTGGAGCTCTGTGA	0.418000													9	59					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:26212431G>T	uc022buc.1	+	0	468	c.468G>T	c.(466-468)tcG>tcT	p.S156S	MAGEB6_uc004dbr.3_Silent_p.S156S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	156	Ser-rich.							p.S156S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507000													3	34					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50244193	50244193	+	Silent	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:50244193C>A	uc002xwg.1	-	16	1791	c.1791G>T	c.(1789-1791)cgG>cgT	p.R597R	ATP9A_uc010gih.1_Silent_p.R461R|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	597					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R597L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACGAGCACCCGCAGCCCTT	0.567000													104	264					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9522268	9522268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr18:9522268C>T	uc002kob.3	+	3	1037	c.814C>T	c.(814-816)Cga>Tga	p.R272*	RALBP1_uc002koc.3_Nonsense_Mutation_p.R272*	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	272	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCAGTATTTGCGAGACCTTCC	0.483000													9	68					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69075248	69075248	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:69075248C>A	uc011bfx.2	-	14	3014	c.2767_splice	c.e14-1	p.E923_splice	TMF1_uc003dnn.3_Splice_Site_p.E920_splice	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	920					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCTTGCGTTCCTTAGGGAGT	0.388000													3	40					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89028439	89028439	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:89028439C>T	uc001pcs.3	+	4	1577	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	499					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGTGAGCTTGCTGTGTCGTCA	0.537000													8	24					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10670558	10670558	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:10670558C>T	uc002moy.1	-	9	882	c.873G>A	c.(871-873)gaG>gaA	p.E291E	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Silent_p.E287E	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	291	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCAGAAACAGCTCCCCTTCGT	0.592000													11	27					0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	73787	73787	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrGL000209.1:73787T>C	uc002qui.2	+	3	460	c.449T>C	c.(448-450)tTt>tCt	p.F150S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.F147S|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.F55S|KIR2DL2_uc010evh.1_Missense_Mutation_p.F43S|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	55	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GATATCATGTTTGAGCACTTC	0.507000													45	20					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22324625	22324625	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:22324625C>T	uc002zvs.3	-	5	973	c.538G>A	c.(538-540)Gct>Act	p.A180T	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Missense_Mutation_p.A180T|TOP3B_uc010gtl.3_Missense_Mutation_p.A180T	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	180					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCCTGGCGAGCATCCACTGAG	0.622000													7	72					0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													2	4	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:30653494_30653496delTGC	uc003nra.3	-	1	531_533	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_uc003nrb.4_In_Frame_Del_p.100_101QQ>Q	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	100	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													7	90	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	-	-	rs12246234		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr10:55587198_55587200delGGC	uc010qhy.1	-	32	4730_4732	c.4335_4337delGCC	c.(4333-4338)ccgcct>cct	p.1445_1446PP>P	PCDH15_uc010qhq.2_In_Frame_Del_p.1445_1446PP>P|PCDH15_uc010qhr.2_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqv.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqw.1_In_Frame_Del_p.1452_1453PP>P|PCDH15_uc010qht.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_uc021pqx.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqz.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_uc010qhv.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_uc010qhw.1_In_Frame_Del_p.1400_1401PP>P|PCDH15_uc010qhx.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_uc010qhz.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qia.1_In_Frame_Del_p.1418_1419PP>P|PCDH15_uc001jju.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qib.1_In_Frame_Del_p.1415_1416PP>P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1440					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1445A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			7	148	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr17:7495872_7495874delCGG	uc002gia.2	-	14	2138_2140	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	RNA binding|protein binding	p.R590S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													11	471	---	---	---	---					
MED26	9441	broad.mit.edu	37	19	16688490	16688490	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:16688490delT	uc002nen.1	-	2	412	c.151delA	c.(151-153)acafs	p.T51fs	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	51	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCAAGTCGTGTTTCCTACAAC	0.537													23	44	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													8	183	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	-	-	rs3747282	byFrequency	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:50350672_50350674delTCT	uc004dpe.2	-	5	3494_3496	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													4	7	---	---	---	---					
