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
SCNN1D	6339	broad.mit.edu	37	1	1222331	1222331	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:1222331C>T	uc001adt.1	+	7	1321	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	SCNN1D_uc001adu.1_Silent_p.S201S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adv.2_Silent_p.S201S|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACTCGGGCAGCCGGGTCAGAG	0.697												
SYDE2	84144	broad.mit.edu	37	1	85656020	85656020	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:85656020C>A	uc009wcm.3	-	1	1210	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F	SYDE2_uc001dku.4_Missense_Mutation_p.L387F	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	387					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCAAAACTCAAGGCACTTG	0.448												
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:152281389C>T	uc001ezu.1	-	2	6009	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1991	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis			
KLHL20	27252	broad.mit.edu	37	1	173744944	173744944	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:173744944G>T	uc001gjc.3	+	9	1780	c.1601G>T	c.(1600-1602)tGg>tTg	p.W534L	KLHL20_uc010pmr.2_Missense_Mutation_p.W345L|KLHL20_uc009wwf.3_Missense_Mutation_p.W516L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	534					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCAACCAGTGGTCTCCAGTG	0.478												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
PHLDA2	7262	broad.mit.edu	37	11	2950491	2950491	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:2950491C>T	uc021qci.1	-	0	104	c.104G>A	c.(103-105)cGc>cAc	p.R35H	PHLDA2_uc001lxa.1_Missense_Mutation_p.R35H	NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 2 (PHLDA2), mRNA.	35	PH.				apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCTCAGGCGGTCGGAGGT	0.667												
OR52J3	119679	broad.mit.edu	37	11	5068409	5068409	+	Silent	SNP	G	G	A	rs148600962		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:5068409G>A	uc010qyv.2	+	0	654	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCATCTCGTATGTTTACA	0.448												
OR5P2	120065	broad.mit.edu	37	11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:7818191G>A	uc001mfp.1	-	0	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483												
OR5W2	390148	broad.mit.edu	37	11	55681318	55681318	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55681318C>T	uc010rir.2	-	0	741	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247A(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATTGCAACCGCAGATAAGT	0.403												
OR5T2	219464	broad.mit.edu	37	11	55999905	55999905	+	Missense_Mutation	SNP	C	C	T	rs146086539		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55999905C>T	uc010rjc.2	-	0	757	c.757G>A	c.(757-759)Gtt>Att	p.V253I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGATCAGAACAATCAGGATA	0.448												
PDE2A	5138	broad.mit.edu	37	11	72293532	72293532	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:72293532A>G	uc010rrc.2	-	20	2053	c.1807T>C	c.(1807-1809)Ttc>Ctc	p.F603L	PDE2A_uc001oso.3_Missense_Mutation_p.F582L|PDE2A_uc010rra.2_Missense_Mutation_p.F596L|PDE2A_uc001osn.3_Missense_Mutation_p.F347L|PDE2A_uc010rrb.2_Missense_Mutation_p.F594L|PDE2A_uc010rrd.2_Missense_Mutation_p.F488L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	603					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GTATAGGTGAAACTTGCAAAA	0.537												
OR8B4	283162	broad.mit.edu	37	11	124294255	124294255	+	Silent	SNP	G	G	A	rs146995996	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:124294255G>A	uc010sak.2	-	0	513	c.513C>T	c.(511-513)aaC>aaT	p.N171N		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCAATGACGTTGGAATCAC	0.512												
SRPR	6734	broad.mit.edu	37	11	126134309	126134309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:126134309C>A	uc001qdh.3	-	11	1829	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	SRPR_uc010sbm.2_Nonsense_Mutation_p.G523*	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	551					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AAGGCTTCTCCTACAAACAGC	0.517												
ZFC3H1	196441	broad.mit.edu	37	12	72057129	72057129	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:72057129G>A	uc001swo.2	-	0	621	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	ZFC3H1_uc010sts.2_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.3_Missense_Mutation_p.R88C|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	88	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCCGCGAGCGTGAGAAATTC	0.652											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NR1H4	9971	broad.mit.edu	37	12	100904745	100904745	+	Missense_Mutation	SNP	G	G	A	rs113431969		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:100904745G>A	uc001tht.2	+	1	327	c.299G>A	c.(298-300)cGt>cAt	p.R100H	NR1H4_uc001thq.2_Missense_Mutation_p.R90H|NR1H4_uc001thp.2_Missense_Mutation_p.R90H|NR1H4_uc001thr.2_Missense_Mutation_p.R90H|NR1H4_uc010svk.2_Missense_Mutation_p.R90H|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R100H	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	100					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GAACTCAGGCGTATGCCAGCT	0.522												
GABRA5	2558	broad.mit.edu	37	15	27114460	27114460	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:27114460T>C	uc001zbd.2	+	2	597	c.65T>C	c.(64-66)aTg>aCg	p.M22T	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.M22T	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	22					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTATTTCCATGAACTTATCC	0.388												
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	G	A	rs112615235	by1000genomes	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393												
CHSY1	22856	broad.mit.edu	37	15	101718018	101718018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:101718018G>A	uc021sxt.1	-	2	2460	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	CHSY1_uc010usd.2_Nonsense_Mutation_p.Q390*	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	662					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGTCATACTGGCTGAAGATG	0.428												
RLTPR	146206	broad.mit.edu	37	16	67683416	67683417	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:67683416_67683417insT	uc002etn.3	+	19	1933_1934	c.1813_1814insT	c.(1813-1815)ctafs	p.L605fs	RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.2_Frame_Shift_Ins_p.L569fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	605	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACTCCGGGCCCTAGCCACCAAT	0.629												
DPEP1	1800	broad.mit.edu	37	16	89704306	89704306	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:89704306G>A	uc010cin.3	+	9	1195	c.992G>A	c.(991-993)aGg>aAg	p.R331K	DPEP1_uc002fnr.4_Missense_Mutation_p.R331K|DPEP1_uc002fns.4_Missense_Mutation_p.R331K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	331					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTGCTCAGGAGGAACTGGACG	0.627												
FXR2	9513	broad.mit.edu	37	17	7495610	7495610	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:7495610G>A	uc002gia.2	-	15	2253	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	MPDU1_uc010vuc.1_Intron|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.	630						cytosolic large ribosomal subunit	protein binding|RNA binding	p.R630C(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGTTTAGTGCGTTCCAGGGGT	0.522												
FKBP10	60681	broad.mit.edu	37	17	39975472	39975472	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:39975472C>T	uc002hxv.2	+	4	1063	c.738C>T	c.(736-738)atC>atT	p.I246I	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	246	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACAGTGATCCCCCCACAGG	0.607												
NPEPPS	9520	broad.mit.edu	37	17	45681356	45681356	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:45681356C>T	uc002ilr.4	+	15	2039	c.1816C>T	c.(1816-1818)Cgt>Tgt	p.R606C	NPEPPS_uc010wkt.2_Missense_Mutation_p.R602C|NPEPPS_uc010wku.2_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.2_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	606					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACCAGGCATTCGTGACCTTTC	0.433												
DSG1	1828	broad.mit.edu	37	18	28934664	28934664	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:28934664C>T	uc002kwp.3	+	14	2717	c.2505C>T	c.(2503-2505)gtC>gtT	p.V835V	DSG1_uc010xbp.2_Silent_p.V194V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	835					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGTAATGTCACTGTGACCG	0.512												
SLC14A2	8170	broad.mit.edu	37	18	43212315	43212315	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:43212315G>T	uc002lbe.3	+	5	1338	c.522_splice	c.e5-1	p.R174_splice	SLC14A2_uc002lbb.3_Splice_Site_p.R174_splice|SLC14A2_uc010dnj.3_Splice_Site_p.R174_splice	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	174						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACCGCCAGGTCTGCCATTG	0.512												
MC4R	4160	broad.mit.edu	37	18	58038973	58038973	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:58038973T>A	uc002lie.1	-	0	1029	c.610A>T	c.(610-612)Atg>Ttg	p.M204L		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	204					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGAGCCAGCATGGTGAAGAAC	0.498												
RBFA	79863	broad.mit.edu	37	18	77796687	77796687	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:77796687A>C	uc002lns.3	+	1	328	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Missense_Mutation_p.S60R|RBFA_uc010dri.2_Intron	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTGGTATGAAAGTCCTTCCTT	0.378												
MAP1S	55201	broad.mit.edu	37	19	17844106	17844106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:17844106G>T	uc002nhe.1	+	5	2902	c.2893G>T	c.(2893-2895)Gag>Tag	p.E965*	MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	965	Necessary for association with actin (By similarity).|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.E965*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCTGGTGGATGAGGAGTTCTT	0.697												
ZNF98	148198	broad.mit.edu	37	19	22574462	22574462	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:22574462T>A	uc002nqt.2	-	3	1697	c.1575A>T	c.(1573-1575)aaA>aaT	p.K525N		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTTAAAGGCTTTGCCGCATT	0.388												
CD37	951	broad.mit.edu	37	19	49840274	49840274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:49840274G>A	uc002pnd.3	+	2	372	c.251G>A	c.(250-252)cGc>cAc	p.R84H	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.3_Missense_Mutation_p.R16H	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	84						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		AAGGAGCTCCGCTGCCTCCTG	0.622												
GPR17	2840	broad.mit.edu	37	2	128408380	128408380	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:128408380G>T	uc010yzn.2	+	3	766	c.155G>T	c.(154-156)gGc>gTc	p.G52V	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.G52V|GPR17_uc010yzo.2_Missense_Mutation_p.G24V|GPR17_uc002tpd.3_Missense_Mutation_p.G24V	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	52						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gagcaatgtggccaggagacg	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM123C	205147	broad.mit.edu	37	2	131521709	131521709	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:131521709C>T	uc021voy.1	+	0	2064	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	FAM123C_uc002trw.2_Silent_p.N688N|FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	688										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TCAGCTCAAACGAACAGCCCC	0.652												
CST7	8530	broad.mit.edu	37	20	24930092	24930092	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:24930092C>A	uc002wtx.2	+	0						NM_003650	NP_003641	O76096	CYTF_HUMAN	Homo sapiens cystatin F (leukocystatin) (CST7), mRNA.						immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CCTGAGAAGGCACTGCACGGC	0.672												
BPIFB3	359710	broad.mit.edu	37	20	31656654	31656654	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:31656654C>T	uc002wym.1	+	9	1024	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	342					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										ACTGTTCCTGCGGGTGAGGGA	0.577												
PHF20	51230	broad.mit.edu	37	20	34487354	34487354	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:34487354G>T	uc002xek.1	+	9	1456	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y	PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTCGACCTAGACCATAAGTT	0.348												
TMPRSS3	64699	broad.mit.edu	37	21	43803180	43803180	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr21:43803180C>T	uc002zbb.2	-	7	945	c.744G>A	c.(742-744)acG>acA	p.T248T	TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T121T|TMPRSS3_uc002zba.2_Silent_p.T121T|TMPRSS3_uc002zbc.2_Silent_p.T248T|TMPRSS3_uc002zbd.3_Silent_p.T248T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	248	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCACAGGGGCGTGATGACAG	0.602												
GGT5	2687	broad.mit.edu	37	22	24622188	24622188	+	Missense_Mutation	SNP	C	C	T	rs149456868		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr22:24622188C>T	uc002zzp.4	-	7	1502	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	GGT5_uc002zzo.4_Missense_Mutation_p.R362H|GGT5_uc002zzr.4_Missense_Mutation_p.R330H|GGT5_uc002zzq.4_Missense_Mutation_p.R330H|GGT5_uc011ajm.2_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	362					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.R362C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GATCTGTTGGCGGATGAGCTG	0.692												
TMEM144	55314	broad.mit.edu	37	4	159136389	159136389	+	Silent	SNP	C	C	G	rs149733307		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr4:159136389C>G	uc003ipx.3	+	3	676	c.156C>G	c.(154-156)gcC>gcG	p.A52A	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	52						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGTTGGTTGCCTTGGTTGTCA	0.383												
PIK3R1	5295	broad.mit.edu	37	5	67591246	67591246	+	Splice_Site	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:67591246A>G	uc003jva.3	+	14	2326	c.1746_splice	c.e14-2	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
FSTL4	23105	broad.mit.edu	37	5	132535036	132535036	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:132535036G>T	uc003kyn.1	-	15	2498	c.2280C>A	c.(2278-2280)gaC>gaA	p.D760E	FSTL4_uc003kym.1_Missense_Mutation_p.D409E	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	760						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAACAGCAGGTCCGGCTCCG	0.582												
ARHGAP26	23092	broad.mit.edu	37	5	142281566	142281566	+	Missense_Mutation	SNP	G	G	A	rs148543665		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:142281566G>A	uc011dbj.2	+	6	699	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	ARHGAP26_uc003lmt.3_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.3_Missense_Mutation_p.G222R	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	222					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.G222W(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGATTTCGGGGACTTCAA	0.448												
SNX14	57231	broad.mit.edu	37	6	86253476	86253476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr6:86253476C>A	uc003pkr.3	-	12	1304	c.1111G>T	c.(1111-1113)Gaa>Taa	p.E371*	SNX14_uc003pkp.3_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Nonsense_Mutation_p.E319*|SNX14_uc003pks.3_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.3_Nonsense_Mutation_p.E371*	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	371	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCATTAAATTCCTCTAACAAA	0.279												
EGFR	1956	broad.mit.edu	37	7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AA	rs149840192		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55221821_55221822GC>AA	uc003tqk.3	+	6	1111_1112	c.865_866GC>AA	c.(865-867)gcc>AAc	p.A289N	EGFR_uc003tqh.3_Missense_Mutation_p.A289N|EGFR_uc003tqi.3_Missense_Mutation_p.A289N|EGFR_uc003tqj.3_Missense_Mutation_p.A289N|EGFR_uc022adm.1_Missense_Mutation_p.A289N|EGFR_uc010kzg.2_Missense_Mutation_p.A244N|EGFR_uc022adn.1_Missense_Mutation_p.A244N|EGFR_uc011kco.2_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55233037C>G	uc003tqk.3	+	14	2033	c.1787C>G	c.(1786-1788)cCg>cGg	p.P596R	EGFR_uc003tqi.3_Missense_Mutation_p.P596R|EGFR_uc003tqj.3_Missense_Mutation_p.P596R|EGFR_uc022adm.1_Missense_Mutation_p.P596R|EGFR_uc010kzg.2_Missense_Mutation_p.P551R|EGFR_uc022adn.1_Missense_Mutation_p.P551R|EGFR_uc011kco.2_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:82784471A>G	uc003uhx.2	-	1	1775	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_uc003uhv.2_Missense_Mutation_p.S496P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(9)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607												
BPGM	669	broad.mit.edu	37	7	134346723	134346723	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:134346723C>T	uc003vrv.3	+	2	1005	c.464C>T	c.(463-465)tCg>tTg	p.S155L	BPGM_uc003vrw.3_Missense_Mutation_p.S155L	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	155					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CTGCCACGGTCGGAAAGCTTA	0.473												
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	Silent	SNP	T	T	A	rs145494190	by1000genomes	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:142482229T>A	uc011ksq.2	+	4	692	c.609T>A	c.(607-609)ccT>ccA	p.P203P	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.									p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493												
SLC34A3	142680	broad.mit.edu	37	9	140128961	140128961	+	Missense_Mutation	SNP	C	C	T	rs138798032		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr9:140128961C>T	uc022bqf.1	+	10	1408	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	SLC34A3_uc011met.2_Missense_Mutation_p.T396M|SLC34A3_uc004cmf.1_Missense_Mutation_p.T396M	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	396					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGCGTCTTCACGGCGGCCGTC	0.721												
DMD	1756	broad.mit.edu	37	X	32663088	32663088	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:32663088G>C	uc004dda.1	-	9	1386	c.1142C>G	c.(1141-1143)aCt>aGt	p.T381S	DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	381					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTCATGAGTATGAAACTG	0.353												
PCDH11X	27328	broad.mit.edu	37	X	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	rs62621113		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:91132696C>T	uc004efk.2	+	1	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTTGACGAAAGTAAGT	0.438												
ARMCX5-GPRASP2	114928	broad.mit.edu	37	X	101971308	101971308	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:101971308A>G	uc022cbh.1	+	0	1511	c.1511A>G	c.(1510-1512)cAt>cGt	p.H504R	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.H504R|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.H504R	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	504						cytoplasm	protein binding										GGTCTTTTTCATGGGGTTGGC	0.512												
PCDH11Y	83259	broad.mit.edu	37	Y	4968500	4968500	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrY:4968500A>G	uc004fqo.3	+	1	3615	c.2881A>G	c.(2881-2883)Aag>Gag	p.K961E	PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	961					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACTACTTTCAAGCCTGACAG	0.458