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
ACTR5	79913	broad.mit.edu	37	20	37383625	37383625	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr20:37383625T>C	uc002xjd.2	+	3	826	c.801T>C	c.(799-801)gaT>gaC	p.D267D		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	267					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGTGTCCTGATTATTATGAGA	0.418000													48	161					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508107	14508107	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr3:14508107A>G	uc010heg.3	+	6	1115	c.816A>G	c.(814-816)gcA>gcG	p.A272A	SLC6A6_uc003byq.3_Silent_p.A272A|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	272				A -> R (in Ref. 1; CAA79481).	cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.A272S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GCGCGGGCGCAGGCATCAAGT	0.632000													7	44					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157100005	157100005	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:157100005C>A	uc003qqp.3	+	0	942	c.942C>A	c.(940-942)ggC>ggA	p.G314G	ARID1B_uc003qqo.3_Silent_p.G314G|ARID1B_uc003qqn.3_Silent_p.G314G	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	314	Gly-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		gcggcggcggcggaggaggag	0.756000													3	23					1	1	1	1	0
PDLIM4	8572	broad.mit.edu	37	5	131607394	131607394	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:131607394A>G	uc003kwo.3	+	4	982	c.905A>G	c.(904-906)gAt>gGt	p.D302G	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Intron|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	0	LIM zinc-binding.						protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGGGTGCCGATGGCCCGTCT	0.652000													15	53					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67811752	67811752	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:67811752G>A	uc001one.3	+	8	1090	c.961G>A	c.(961-963)Gag>Aag	p.E321K	TCIRG1_uc001ong.3_Missense_Mutation_p.E105K	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	321					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCTCATTGCCGAGGCCTGGTG	0.697000													7	38					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106802825	106802825	+	Missense_Mutation	SNP	A	A	G	rs145778074	byFrequency	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr10:106802825A>G	uc001kyi.1	+	4	1194	c.967A>G	c.(967-969)Atg>Gtg	p.M323V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	323						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACAGCTCCATGGACTTTGG	0.453000													12	81					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207027278	207027278	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:207027278A>T	uc002vbg.1	+	5	575	c.463A>T	c.(463-465)Atg>Ttg	p.M155L	EEF1B2_uc002vbf.1_Missense_Mutation_p.M155L|EEF1B2_uc002vbh.1_Missense_Mutation_p.M155L	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	155						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TGAGACAGATATGGCGAAATT	0.388000													25	149					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867462	6867462	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:6867462G>A	uc001met.1	+	0	549	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183P(4)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGACAGCCCGCCTGTGCTGA	0.527000													4	98					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56487643	56487643	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:56487643C>T	uc002qmh.3	+	7	2921	c.2850C>T	c.(2848-2850)aaC>aaT	p.N950N	NLRP8_uc010etg.3_Silent_p.N931N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	950						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCTGAAGAACCCTGACTGTA	0.453000													19	108					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561841	145561841	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:145561841G>A	uc001eob.1	+	9	1637	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	ANKRD35_uc010oyx.1_Missense_Mutation_p.R353Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	510								p.R510R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCTGCCCGGGGGGCTTTG	0.632000													9	76					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88536460	88536460	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr4:88536460C>T	uc003hqu.3	+	4	2766	c.2646C>T	c.(2644-2646)agC>agT	p.S882S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	882	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D881_S882insSSD(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498000													8	147					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	102100555	102100555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:102100555G>T	uc001pgt.3	+	8	1787	c.1399G>T	c.(1399-1401)Gga>Tga	p.G467*	YAP1_uc001pgu.3_Nonsense_Mutation_p.G451*|YAP1_uc001pgv.3_Nonsense_Mutation_p.G413*|YAP1_uc021qpf.1_Nonsense_Mutation_p.G429*|YAP1_uc010ruo.2_Nonsense_Mutation_p.G289*|YAP1_uc001pgw.2_Nonsense_Mutation_p.G291*|YAP1_uc010rup.1_Nonsense_Mutation_p.G232*	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	467	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GAACATAGAAGGAGAGGAGCT	0.483000													14	73					4.93089e-13	5.96403e-13	1	1	0
UBR5	51366	broad.mit.edu	37	8	103287958	103287958	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr8:103287958T>C	uc003ykr.2	-	45	7063	c.6608A>G	c.(6607-6609)gAt>gGt	p.D2203G	UBR5_uc003yks.2_Missense_Mutation_p.D2203G	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2203					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTCCAACATCTTCCATGAA	0.418000													9	90					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277128	48277128	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:48277128C>T	uc002iqm.3	-	1	410	c.284G>A	c.(283-285)tGc>tAc	p.C95Y		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	95	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCGTCGGGGCAGACGGGACA	0.731000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	35					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19288499	19288499	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:19288499C>T	uc002gvs.3	-	4	606	c.505G>A	c.(505-507)Gct>Act	p.A169T	MFAP4_uc002gvt.3_Missense_Mutation_p.A145T	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	145	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGAAGTCAGCGTACTTGGCA	0.577000													3	86					0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238494741	238494741	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:238494741C>A	uc002vwz.2	-	1	720	c.57G>T	c.(55-57)gtG>gtT	p.V19V	RAB17_uc002vxb.2_Non-coding_Transcript	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	Homo sapiens RAB17, member RAS oncogene family (RAB17), transcript variant 1, mRNA.	19			V -> A (in dbSNP:rs3751112).		protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CCAGCTTGAACACACGGGGCT	0.597000													15	86					2.48551e-13	3.03518e-13	1	1	0
HDLBP	3069	broad.mit.edu	37	2	242173343	242173343	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:242173343G>A	uc002waz.3	-	23	3353	c.3180C>T	c.(3178-3180)gaC>gaT	p.D1060D	HDLBP_uc002wba.3_Silent_p.D1060D|HDLBP_uc021vzg.1_Silent_p.D1027D	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	1060	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGTATTTGGGGTCTACAGTGA	0.468000													4	70					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625315	33625315	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:33625315C>T	uc001bxb.3	-	2	1373	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	245						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CCACCCCAGCCAGGAAGGTGT	0.682000													3	11					0	0	1	0	0
SLC25A1	6576	broad.mit.edu	37	22	19165669	19165669	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr22:19165669T>G	uc021wlb.1	-	0	205	c.200A>C	c.(199-201)cAc>cCc	p.H67P	SLC25A1_uc002zoy.3_5'UTR|SLC25A1_uc002zoz.3_Missense_Mutation_p.H60P	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		CCGCGGCGGGTGCGAGCGCTC	0.746000													5	60					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049049	143049049	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr7:143049049G>A	uc003wcr.1	+	22	3045	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L	CLCN1_uc011ktc.1_Silent_p.L598L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	986					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGATGAACTGATCCTTTGAC	0.617000													20	70					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75705130	75705130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:75705130G>A	uc002bai.3	-	4	989	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	SIN3A_uc002baj.3_Nonsense_Mutation_p.Q244*|SIN3A_uc010uml.2_Nonsense_Mutation_p.Q244*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	244	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGTGggggctgaggagctggc	0.552000													10	63					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72413388	72413388	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr4:72413388T>C	uc010iic.3	+	19	2762	c.2645T>C	c.(2644-2646)cTt>cCt	p.L882P	SLC4A4_uc003hfy.3_Missense_Mutation_p.L882P|SLC4A4_uc010iib.3_Intron|SLC4A4_uc003hfz.3_Missense_Mutation_p.L882P|SLC4A4_uc003hgc.4_Missense_Mutation_p.L838P|SLC4A4_uc010iid.3_Missense_Mutation_p.L86P	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	882						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACTGGAACCCTTGTGTTTATT	0.373000													6	63					0	0	1	0	0
RP2	6102	broad.mit.edu	37	X	46696623	46696623	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chrX:46696623G>T	uc004dgw.4	+	0	277	c.88G>T	c.(88-90)Gat>Tat	p.D30Y		NM_006915	NP_008846	O75695	XRP2_HUMAN	Homo sapiens retinitis pigmentosa 2 (X-linked recessive) (RP2), mRNA.	30	C-CAP/cofactor C-like.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell morphogenesis|protein folding|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GTACAGCTGGGATCAGCGCGA	0.657000													50	121					1.08114e-33	1.34613e-33	1	1	0
FZD10	11211	broad.mit.edu	37	12	130647553	130647553	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr12:130647553C>A	uc001uii.3	+	0	550	c.66C>A	c.(64-66)agC>agA	p.S22R	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	22					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S22R(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCCATCAGCTCCATGGACA	0.667000													5	53					0.00829132	0.00892371	1	1	0
AGXT2L2	85007	broad.mit.edu	37	5	177649897	177649897	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:177649897T>C	uc003miz.3	-	6	909	c.657A>G	c.(655-657)ggA>ggG	p.G219G	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Silent_p.G178G|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Silent_p.G77G	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	219						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGATCTGCCCTCCCACACTGG	0.582000													5	53					0	0	1	0	0
GTF2A1	2957	broad.mit.edu	37	14	81659105	81659105	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr14:81659105T>A	uc001xvf.1	-	6	1123	c.691A>T	c.(691-693)Aat>Tat	p.N231Y	GTF2A1_uc010atb.1_Missense_Mutation_p.N181Y|GTF2A1_uc001xvg.1_Missense_Mutation_p.N192Y	NM_015859	NP_963889	P52655	TF2AA_HUMAN	Homo sapiens general transcription factor IIA, 1, 19/37kDa (GTF2A1), transcript variant 1, mRNA.	231					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|TBP-class protein binding|protein binding|protein heterodimerization activity|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TGAGTCTTATTTCCTGTAAAT	0.502000													7	57					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642221	111642221	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr10:111642221G>A	uc001kyp.2	-	9	1130	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	XPNPEP1_uc009xxt.2_Missense_Mutation_p.A337V|XPNPEP1_uc001kyq.2_Missense_Mutation_p.A223V|XPNPEP1_uc010qrb.2_Missense_Mutation_p.A337V|XPNPEP1_uc010qra.1_Missense_Mutation_p.A61V	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	294					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AGCATAGCTGGCCTTGTCACT	0.567000													3	53					0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110873286	110873286	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:110873286G>A	uc002tfk.3	-	0	858	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MALL_uc010fju.3_Non-coding_Transcript	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	28	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GGAAGAAGGCGAAAGGGATGG	0.726000													18	130					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423580	72423580	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:72423580C>G	uc001osu.3	-	5	970	c.781G>C	c.(781-783)Gtg>Ctg	p.V261L	ARAP1_uc001osv.3_Missense_Mutation_p.V261L|ARAP1_uc001osr.3_Missense_Mutation_p.V21L|ARAP1_uc001oss.3_Missense_Mutation_p.V16L|ARAP1_uc009yth.3_Missense_Mutation_p.V16L|ARAP1_uc010rre.2_Missense_Mutation_p.V16L	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	261					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCCACGCGCACGGCCCGTGGG	0.667000													3	38					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350728	79350728	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:79350728A>T	uc002beq.3	-	2	854	c.479T>A	c.(478-480)cTt>cAt	p.L160H	RASGRF1_uc002bep.3_Missense_Mutation_p.L160H|RASGRF1_uc010blm.1_Missense_Mutation_p.L82H|RASGRF1_uc002ber.4_Missense_Mutation_p.L160H	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	160					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGCTGCCGAAGCTGCTTGGC	0.602000													4	34					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679366	43679366	+	Splice_Site	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:43679366C>T	uc002ovu.3	-	4	1095	c.964_splice	c.e4+1	p.A322_splice	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Splice_Site_p.A322_splice	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	322					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GATCCACTTACCAGAGACTTC	0.463000													12	93					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6084205	6084205	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr7:6084205T>G	uc003spp.3	-	6	864	c.718A>C	c.(718-720)Att>Ctt	p.I240L	EIF2AK1_uc003spq.3_Missense_Mutation_p.I240L|EIF2AK1_uc011jwm.1_Missense_Mutation_p.I116L|EIF2AK1_uc003spr.1_Missense_Mutation_p.I32L	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	240	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CGTGGCTGAATCACATGAACA	0.468000													6	30					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166890003	166890003	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:166890003C>T	uc001gdx.2	-	8	1881	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	609						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TAGGGCAGGTCGCGGCCGCGG	0.687000													6	19					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13307840	13307840	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:13307840A>T	uc003naj.3	-	5	765	c.657T>A	c.(655-657)agT>agA	p.S219R	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.S219R|TBC1D7_uc003nan.3_Missense_Mutation_p.S219R|TBC1D7_uc003nam.3_Missense_Mutation_p.S219R|TBC1D7_uc003nao.3_Missense_Mutation_p.S192R|TBC1D7_uc010jpd.3_Missense_Mutation_p.S173R	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	219	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GCCTCTGTAAACTGGATTCAG	0.478000													3	42					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137088931	137088931	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:137088931G>A	uc003lbt.3	-	0	1109	c.825C>T	c.(823-825)ggC>ggT	p.G275G	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	275	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding	p.G275G(2)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			Tgcctccaccgccgccgccgc	0.632000													4	62					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162688920	162688920	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:162688920G>C	uc001gcf.3	+	3	532	c.67G>C	c.(67-69)Gct>Cct	p.A23P	DDR2_uc001gcg.3_Missense_Mutation_p.A23P	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	23					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TTCTGCAAAAGCTCAGGTTAA	0.453000													3	49					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr16:70268081G>A	uc010cfp.1	-	2		c.334C>T								Homo sapiens cDNA, FLJ98908.																		TCTTACTGTTGGCTAAAAGGC	0.373000													3	70					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27702392	27702392	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:27702392T>A	uc002rku.3	-	9	1040	c.989A>T	c.(988-990)tAt>tTt	p.Y330F	IFT172_uc002rkv.3_Splice_Site_p.Y330_splice|IFT172_uc010yls.2_Missense_Mutation_p.Y309F|IFT172_uc010ezc.3_Missense_Mutation_p.Y330F	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	330					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGGTCCCACATACGTCAACTC	0.507000													11	71					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65168213	65168213	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:65168213C>T	uc001odu.4	+	8	1138	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	FRMD8_uc009yqj.3_Missense_Mutation_p.R260C|FRMD8_uc010rof.2_Missense_Mutation_p.R282C	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	316	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GCTGGGCCTGCGCTTCCAGGA	0.657000													11	54					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62954577	62954577	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr12:62954577T>A	uc001sre.3	+	25	4107	c.3716T>A	c.(3715-3717)cTa>cAa	p.L1239Q	MON2_uc010ssn.2_Missense_Mutation_p.L1239Q|MON2_uc009zqj.3_Missense_Mutation_p.L1239Q|MON2_uc010ssl.2_Missense_Mutation_p.L1167Q|MON2_uc010ssm.2_Missense_Mutation_p.L1216Q|MON2_uc001srf.3_Missense_Mutation_p.L1002Q|MON2_uc001srg.3_Missense_Mutation_p.L114Q	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1240					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GATTTGAATCTATGGTGGGCT	0.393000													21	75					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237358	56237358	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:56237358T>A	uc010rjk.2	-	0	657	c.616A>T	c.(616-618)Aca>Tca	p.T206S	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGGGAATATGTGAAGTTAATG	0.428000													18	140					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38463363	38463363	+	Silent	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:38463363G>T	uc001cck.3	-	4	860	c.681C>A	c.(679-681)ccC>ccA	p.P227P	FHL3_uc001ccm.3_Silent_p.P119P	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	227	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACCTACGATGGGGCGCTTGC	0.592000													3	52					0.150653	0.155553	1	1	0
IFIT5	24138	broad.mit.edu	37	10	91177012	91177012	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr10:91177012A>G	uc010qnh.2	+	1	287	c.56A>G	c.(55-57)cAt>cGt	p.H19R	LIPA_uc001kgb.4_5'Flank|LIPA_uc001kgc.4_5'Flank|IFIT5_uc010qng.1_Missense_Mutation_p.H19R	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	19							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TTAGAATGTCATTTTACATGG	0.318000													13	92					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56083837	56083837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:56083837G>T	uc002ivi.3	-	1	455	c.246C>A	c.(244-246)taC>taA	p.Y82*	SRSF1_uc002ivj.3_Nonsense_Mutation_p.Y82*	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA.	82	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding|nucleotide binding	p.Y82*(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCGCAGACGGTACCCATCGT	0.637000													18	150					1.33834e-09	1.58849e-09	1	1	0
CREBRF	153222	broad.mit.edu	37	5	172518246	172518246	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:172518246A>T	uc003mch.3	+	3	1383	c.1064A>T	c.(1063-1065)gAa>gTa	p.E355V	CREBRF_uc003mcf.3_Missense_Mutation_p.E355V|CREBRF_uc003mcg.3_Missense_Mutation_p.E355V|CREBRF_uc011dfd.1_Missense_Mutation_p.E355V	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	355	Glu-rich.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TGCAGTCCtgaagaagatgag	0.443000													30	123					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46918387	46918387	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr21:46918387G>T	uc010gpy.1	-	5	1757	c.1433C>A	c.(1432-1434)gCg>gAg	p.A478E	COL18A1_uc002zhg.3_Intron|COL18A1_uc002zhi.3_Intron	NM_001205206	NP_001192135	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 2, mRNA.	0					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CACGGTCCCCGCTCGCCGCCA	0.746000													3	80					1	1	1	1	0
MRPS31	10240	broad.mit.edu	37	13	41323388	41323388	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr13:41323388A>T	uc001uxm.4	-	5	919	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	282						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TGCTTAGCAAATTCCACATCC	0.368000													7	66					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277127	48277127	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:48277127G>A	uc002iqm.3	-	1	411	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	95	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGCCGTCGGGGCAGACGGGAC	0.726000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	35					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858489	9858489	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr16:9858489T>C	uc010uym.2	-	13	3222	c.2912A>G	c.(2911-2913)cAg>cGg	p.Q971R	GRIN2A_uc002czo.4_Missense_Mutation_p.Q971R|GRIN2A_uc010uyn.2_Missense_Mutation_p.Q814R|GRIN2A_uc002czr.4_Missense_Mutation_p.Q971R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	971					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R970W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTATCCTTCTGCCGGTTGGC	0.468000													27	53					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47361658	47361658	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr20:47361658G>A	uc002xtw.1	-	2	341	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	106	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAACTTCCAGGATGTCTTCGA	0.473000													17	52					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090738	143090738	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:143090738G>T	uc003qjd.3	-	4	5881	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCGGTTCCAGGCCTATGCAT	0.433000													11	64					8.60227e-14	1.06067e-13	1	1	0
ISL1	3670	broad.mit.edu	37	5	50680410	50680410	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:50680410A>G	uc003jor.3	+	1	612	c.64A>G	c.(64-66)Aat>Gat	p.N22D		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	22	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGGTTGCGGCAATCAGATTCA	0.393000													40	115					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19416711	19416711	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:19416711T>C	uc002nmh.3	-	3	501	c.485A>G	c.(484-486)cAg>cGg	p.Q162R	SUGP1_uc002nmg.3_5'Flank|SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	162					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTCAGGGGACTGGAAGACACT	0.662000													3	40					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807653	1807653	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr4:1807653T>A	uc003gdr.3	+	12	2078	c.1822T>A	c.(1822-1824)Ttg>Atg	p.L608M	FGFR3_uc003gdu.2_Missense_Mutation_p.L610M|FGFR3_uc003gds.3_Missense_Mutation_p.L496M|FGFR3_uc003gdq.3_Missense_Mutation_p.L609M	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	608	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CATGGAGTACTTGGCCTCCCA	0.662000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				15	32					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31373395	31373395	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr16:31373395G>A	uc002ebt.3	+	11	1154	c.1087_splice	c.e11-1	p.D363_splice	ITGAX_uc002ebu.1_Splice_Site_p.D363_splice|ITGAX_uc010vfk.1_Splice_Site_p.D13_splice	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	363					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTTTCTCCCAGGATGGCCCCG	0.592000													9	58					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974843	16974843	+	RNA	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:16974843C>T	uc010och.2	+	6		c.1303C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TCAGCAAGACCCGCAAGGGTG	0.746000													4	57					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226194	2226194	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:2226194C>T	uc002lvc.1	+	12	2323	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	DOT1L_uc002lvb.4_Missense_Mutation_p.A1225V	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1225						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCTTGGCGGGAAGGAAG	0.677000													10	36					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99929881	99929881	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr14:99929881C>T	uc001ygc.3	-	2	308	c.138G>A	c.(136-138)gaG>gaA	p.E46E	SETD3_uc001ygd.3_Silent_p.E46E|SETD3_uc021sbn.1_Silent_p.E46E|SETD3_uc001ygf.3_Silent_p.E46E	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	46					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ACTCTTCCCACTCTTTTCCTG	0.413000													9	39					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128933815	128933815	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:128933815A>G	uc009zcp.3	-	7	825	c.825T>C	c.(823-825)ccT>ccC	p.P275P	ARHGAP32_uc009zcq.2_Silent_p.P235P|ARHGAP32_uc001qfb.3_Silent_p.P60P	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	275	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCAGTTCGTCAGGGGCCCGAG	0.433000													20	100					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302198	7302198	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr12:7302198T>C	uc001qss.3	+	12	2728	c.2190T>C	c.(2188-2190)gaT>gaC	p.D730D	CLSTN3_uc001qsr.3_Silent_p.D718D	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	718					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ATGACCTGGATCCCGAGCGGG	0.572000													17	39					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429158	57429158	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr20:57429158G>A	uc002xzw.3	+	0	1123	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0			R -> G (in PHP1A).|R -> K (in PHP1A).		G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGTCCCAGGCGCCATCGGCAG	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	92					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs80035763	byFrequency	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr10:43659419G>T	uc001jan.3	+	4	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	362					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L362F(10)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433000													3	104					2.56e-06	2.92901e-06	1	1	0
TPR	7175	broad.mit.edu	37	1	186316562	186316562	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:186316562A>G	uc001grv.3	-	21	3102	c.2805T>C	c.(2803-2805)gaT>gaC	p.D935D	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	935					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCACAAGATCATCCACATCTT	0.368000			T	NTRK1	papillary thyroid								3	59					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73796809	73796809	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:73796809C>G	uc001ouu.2	-	20	3991	c.3764G>C	c.(3763-3765)tGt>tCt	p.C1255S	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1255	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCAGAAAGAACAGGCCACAGG	0.547000													17	99					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191110	6191110	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:6191110G>A	uc010qzy.2	-	0	447	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGATGACGGCCAGAGCAA	0.517000													4	44					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50396218	50396218	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr3:50396218A>G	uc003dan.1	-	0	722	c.277T>C	c.(277-279)Tgg>Cgg	p.W93R	Mir_324_uc021wyp.1_5'Flank	NM_007024	NP_008955	Q12893	TM115_HUMAN	Homo sapiens transmembrane protein 115 (TMEM115), mRNA.	93					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGGCCCCCCAGAGGGGCTCC	0.622000													10	65					0	0	1	0	0
CCDC117	150275	broad.mit.edu	37	22	29176936	29176936	+	Splice_Site	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr22:29176936T>A	uc003aeb.3	+	3	416	c.240_splice	c.e3-1	p.D80_splice	CCDC117_uc011aki.2_Splice_Site_p.R62_splice|CCDC117_uc011akj.2_Intron|CCDC117_uc011akk.2_Splice_Site	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	Homo sapiens coiled-coil domain containing 117 (CCDC117), mRNA.	80										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TTTTTTTCAGTTGTCCAGTAA	0.338000													9	85					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832185	86832185	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:86832185A>G	uc002srn.3	-	3	1830	c.839T>C	c.(838-840)aTt>aCt	p.I280T	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.I141T|RNF103_uc021vkg.1_Missense_Mutation_p.I276T|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	280					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ATATATGCCAATATCTGTCAT	0.353000													8	113					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85361150	85361150	+	Silent	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:85361150C>G	uc002soy.3	+	1	486	c.261C>G	c.(259-261)cgC>cgG	p.R87R		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	87					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R87H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGGAGAGGCGCCCGCAGCCCG	0.697000													14	83					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30771555	30771555	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:30771555C>T	uc010cta.1	+	0	54	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PSMD11_uc010wbz.1_Missense_Mutation_p.A5V|PSMD11_uc002hhm.3_Missense_Mutation_p.A5V	NM_002815	NP_002806	O00231	PSD11_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 (PSMD11), mRNA.	5					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701000													4	110					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121706046	121706046	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr8:121706046C>T	uc010mdg.3	-	1	900	c.674G>A	c.(673-675)aGc>aAc	p.S225N	SNTB1_uc003ype.3_Missense_Mutation_p.S225N	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	225	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCTGAGGTGCTGCCCCCTAA	0.572000													3	75					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65631192	65631192	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:65631192G>A	uc001ofv.4	+	9	1314	c.961_splice	c.e9+1	p.A321_splice	MUS81_uc001ofx.4_Splice_Site	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	321	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TAGAGACCCAGGTGAAGGGCC	0.637000								Homologous recombination					17	74					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34895341	34895341	+	Silent	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:34895341G>T	uc002nvj.3	+	0	39	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	2						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGCCATGGCGGCCGTTCTGA	0.662000													3	50					0.115264	0.119988	1	1	0
USH1C	10083	broad.mit.edu	37	11	17542471	17542471	+	Missense_Mutation	SNP	A	A	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:17542471A>C	uc001mnf.3	-	13	1265	c.1156T>G	c.(1156-1158)Ttg>Gtg	p.L386V	USH1C_uc001mne.3_Missense_Mutation_p.L386V|USH1C_uc009yhb.3_Missense_Mutation_p.L367V|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.L350V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	386					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTTTTAGGCAAGAGTAGCTGT	0.488000													9	62					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228131751	228131751	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:228131751G>T	uc002vom.2	+	22	1613	c.1451G>T	c.(1450-1452)gGg>gTg	p.G484V	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	484	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TATATCCCAGGGCCTCCCGGT	0.468000													12	46					4.3838e-07	5.10773e-07	1	1	0
RYR1	6261	broad.mit.edu	37	19	38948847	38948847	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr19:38948847C>G	uc002oit.3	+	17	2212	c.2082C>G	c.(2080-2082)taC>taG	p.Y694*	RYR1_uc002oiu.3_Nonsense_Mutation_p.Y694*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	694	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACACCCCCTACCCTGGGGCCG	0.637000													6	36					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890832	207890832	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:207890832G>T	uc001hga.4	+	10	1559	c.1438G>T	c.(1438-1440)Gct>Tct	p.A480S	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	480	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAATCCTCCAGCTATCCTTAA	0.413000													5	169					0.00116845	0.00129037	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111117912	111117912	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr13:111117912T>A	uc001vqx.3	+	24	2226	c.1937T>A	c.(1936-1938)tTc>tAc	p.F646Y		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	646	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCACCAGGCTTCCTGGGCCCT	0.597000													11	96					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51828388	51828388	+	Silent	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:51828388T>G	uc010ufy.2	-	11	2514	c.2289A>C	c.(2287-2289)ccA>ccC	p.P763P	DMXL2_uc002abf.3_Silent_p.P763P|DMXL2_uc010bfa.3_Silent_p.P763P	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	763						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAATGAGAGTTGGAAGCCAAG	0.358000													4	77					0	0	1	0	0
GSTT1	2952	broad.mit.edu	37	22	24384206	24384206	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr22:24384206A>T	uc002zze.4	-	0	79	c.26T>A	c.(25-27)cTg>cAg	p.L9Q	GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_5'UTR|GSTT1_uc010guh.3_Non-coding_Transcript|GSTT1_uc010gui.1_Non-coding_Transcript	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	9	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CTGGGACAGCAGGTCCAGGTA	0.592000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				19	52					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383064	31383064	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr16:31383064G>A	uc002ebt.3	+	16	2186	c.2119G>A	c.(2119-2121)Ggg>Agg	p.G707R	ITGAX_uc002ebu.1_Missense_Mutation_p.G707R	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	707					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCGAGTCCTCGGGCTGAAGGC	0.652000													5	47					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113418053	113418053	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:113418053T>C	uc002tib.3	+	8	2236	c.1697T>C	c.(1696-1698)cTc>cCc	p.L566P	SLC20A1_uc002tic.1_Missense_Mutation_p.L378P	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	566					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCTTCTACTCTATGGTGGT	0.458000													24	122					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904174	21904174	+	RNA	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr17:21904174G>A	uc002gza.2	+	0		c.113G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gggaagcagcgtggcatccca	0.677000													3	71					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138344645	138344645	+	Missense_Mutation	SNP	G	G	A	rs139868586	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr7:138344645G>A	uc011kqh.2	-	4	434	c.434C>T	c.(433-435)aCg>aTg	p.T145M	SVOPL_uc003vue.3_Intron	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	145						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCCACCATCGTCCGCAGGAA	0.552000													9	65					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237348	56237348	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:56237348A>T	uc010rjk.2	-	0	667	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATTACAGTCAGGGAATATGT	0.438000													18	138					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331710	85331710	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:85331710T>G	uc001dkl.2	-	0	133	c.94A>C	c.(94-96)Att>Ctt	p.I32L	LPAR3_uc009wcj.1_Missense_Mutation_p.I32L	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	32					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CACAAAACAATCACAAGCTTT	0.383000													5	257					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57100282	57100282	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:57100282C>A	uc001njt.3	-	5	852	c.585G>T	c.(583-585)acG>acT	p.T195T	SSRP1_uc010rjq.1_Silent_p.T195T	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	195					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGCATCTCCCGTGGCCTGGA	0.562000													12	53					2.61681e-11	3.13524e-11	1	1	0
CTSL1	1514	broad.mit.edu	37	9	90344596	90344596	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr9:90344596C>T	uc004api.3	+	5	935	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	CTSL1_uc004aph.3_Missense_Mutation_p.P244S|CTSL1_uc010mqh.3_Missense_Mutation_p.P62S|CTSL1_uc004apl.3_Missense_Mutation_p.P244S|CTSL1_uc004apk.3_Missense_Mutation_p.P244S	NM_145918	NP_666023	P07711	CATL1_HUMAN	Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA.	244					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)	19					Glucagon recombinant(DB00040)	AACTGTGGGGCCCATTTCTGT	0.428000													16	55					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554007	152554007	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr3:152554007A>G	uc003ezq.3	+	0	1272	c.436A>G	c.(436-438)Agt>Ggt	p.S146G		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GACATGCATCAGTGCCCACCG	0.507000													4	76					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76183839	76183839	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:76183839G>T	uc001oxl.3	+	7	1206	c.1063G>T	c.(1063-1065)Gtg>Ttg	p.V355L	C11orf30_uc009yuj.1_Missense_Mutation_p.V370L|C11orf30_uc010rsa.1_Missense_Mutation_p.V305L|C11orf30_uc001oxm.3_Missense_Mutation_p.V356L|C11orf30_uc010rsb.2_Missense_Mutation_p.V370L|C11orf30_uc010rsc.2_Missense_Mutation_p.V370L|C11orf30_uc001oxn.3_Missense_Mutation_p.V356L|C11orf30_uc010rsd.2_Missense_Mutation_p.V369L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	355	Interaction with BRCA2.|Ser-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGTAACAGCTGTGGTGTCCTC	0.433000													3	94					6.4e-05	7.12982e-05	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156879832	156879832	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:156879832G>A	uc001fqj.1	+	12	1726	c.1610G>A	c.(1609-1611)tGt>tAt	p.C537Y	PEAR1_uc001fqk.1_Missense_Mutation_p.C162Y	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	537						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGTCGCTGTGACTGTGAC	0.627000													3	17					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999075	112999075	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:112999075A>G	uc001ebx.3	+	5	1189	c.961A>G	c.(961-963)Aga>Gga	p.R321G	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	321						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGCAGAAAGAACCCATGG	0.483000													18	84					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32156280	32156280	+	Splice_Site	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:32156280G>T	uc003oav.1	-	3	567	c.296_splice	c.e3-1	p.G99_splice	PBX2_uc003oaw.3_Splice_Site_p.G99_splice	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	99							transcription factor binding	p.G99G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATGCTGAGGCCTAGCATGC	0.612000													6	54					3.59834e-05	4.04415e-05	1	1	0
ASPM	259266	broad.mit.edu	37	1	197072290	197072290	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr1:197072290A>G	uc001gtu.3	-	17	6348	c.6091T>C	c.(6091-6093)Tat>Cat	p.Y2031H	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2031	IQ 14.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATACCACGATAAGCTGACTGT	0.328000													16	73					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:95825407C>T	uc001pfw.1	-	1	3073	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	596					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q596Q(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgtt	0.532000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								9	63					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31197838	31197838	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:31197838T>G	uc001zff.3	+	1	1263	c.972T>G	c.(970-972)caT>caG	p.H324Q	FAN1_uc001zfc.3_Missense_Mutation_p.H324Q|FAN1_uc010azw.2_Missense_Mutation_p.H324Q|FAN1_uc001zfd.3_Missense_Mutation_p.H324Q|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	324					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAAAATCTCATAGTTCTGCAG	0.418000								Direct reversal of damage					15	64					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948603	71948603	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:71948603A>G	uc001osf.3	+	25	3462	c.3315A>G	c.(3313-3315)ccA>ccG	p.P1105P	INPPL1_uc001osg.3_Silent_p.P863P	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1105	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCCCTCACCAGCCAGCACTT	0.692000													15	46					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134060676	134060676	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:134060676G>C	uc003kzs.3	+	22	3466	c.3174G>C	c.(3172-3174)gaG>gaC	p.E1058D	SEC24A_uc011cxu.2_Missense_Mutation_p.E822D	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	1058					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAGGGATGAGAGTCCAATGA	0.323000													40	315					0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37383625	37383625	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr20:37383625T>C	uc002xjd.2	+	3	826	c.801T>C	c.(799-801)gaT>gaC	p.D267D		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	267					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGTGTCCTGATTATTATGAGA	0.418000													48	161					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508107	14508107	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr3:14508107A>G	uc010heg.3	+	6	1115	c.816A>G	c.(814-816)gcA>gcG	p.A272A	SLC6A6_uc003byq.3_Silent_p.A272A|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	272				A -> R (in Ref. 1; CAA79481).	cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.A272S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GCGCGGGCGCAGGCATCAAGT	0.632000													7	44					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157100005	157100005	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr6:157100005C>A	uc003qqp.3	+	0	942	c.942C>A	c.(940-942)ggC>ggA	p.G314G	ARID1B_uc003qqo.3_Silent_p.G314G|ARID1B_uc003qqn.3_Silent_p.G314G	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	314	Gly-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		gcggcggcggcggaggaggag	0.756000													3	23					1	1	1	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20488769	20488769	+	RNA	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:20488769C>T	uc001ytf.1	+	1		c.252C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TTGGGCACTCCAAGATTTTGG	0.403000													6	271					0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607394	131607394	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr5:131607394A>G	uc003kwo.3	+	4	982	c.905A>G	c.(904-906)gAt>gGt	p.D302G	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Intron|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	0	LIM zinc-binding.						protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGGGTGCCGATGGCCCGTCT	0.652000													15	53					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	T	A	rs148810844	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:58352661T>A	uc021vcp.1	+	2	854	c.619T>A	c.(619-621)Ttt>Att	p.F207I	ZNF587_uc002qqb.2_Intron|ZNF587B_uc021vcn.1_Missense_Mutation_p.F157I|ZNF587_uc002qqi.2_Intron|ZNF587_uc010yhh.2_Intron|ZNF587_uc021vco.1_Intron|ZNF587_uc002qqj.1_Intron	NM_001204818	NP_001191747	B4DR41	B4DR41_HUMAN	Homo sapiens zinc finger protein (LOC100293516), mRNA.	207					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493000													6	119					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67811752	67811752	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:67811752G>A	uc001one.3	+	8	1090	c.961G>A	c.(961-963)Gag>Aag	p.E321K	TCIRG1_uc001ong.3_Missense_Mutation_p.E105K	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	321					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCTCATTGCCGAGGCCTGGTG	0.697000													7	38					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125651141	125651141	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr10:125651141G>T	uc001lhk.1	-	0	360	c.35C>A	c.(34-36)gCc>gAc	p.A12D	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	12					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGCACCAGGGCCAGCGCTGG	0.766000													7	50					5.18039e-06	5.95541e-06	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106802825	106802825	+	Missense_Mutation	SNP	A	A	G	rs145778074	byFrequency	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr10:106802825A>G	uc001kyi.1	+	4	1194	c.967A>G	c.(967-969)Atg>Gtg	p.M323V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	323						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACAGCTCCATGGACTTTGG	0.453000													12	81					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948847	38948847	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:38948847C>G	uc002oit.3	+	17	2212	c.2082C>G	c.(2080-2082)taC>taG	p.Y694*	RYR1_uc002oiu.3_Nonsense_Mutation_p.Y694*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	694	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACACCCCCTACCCTGGGGCCG	0.637000													6	36					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207027278	207027278	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:207027278A>T	uc002vbg.1	+	5	575	c.463A>T	c.(463-465)Atg>Ttg	p.M155L	EEF1B2_uc002vbf.1_Missense_Mutation_p.M155L|EEF1B2_uc002vbh.1_Missense_Mutation_p.M155L	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	155						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TGAGACAGATATGGCGAAATT	0.388000													25	149					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867462	6867462	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:6867462G>A	uc001met.1	+	0	549	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183P(4)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGACAGCCCGCCTGTGCTGA	0.527000													4	98					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56487643	56487643	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:56487643C>T	uc002qmh.3	+	7	2921	c.2850C>T	c.(2848-2850)aaC>aaT	p.N950N	NLRP8_uc010etg.3_Silent_p.N931N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	950						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCTGAAGAACCCTGACTGTA	0.453000													19	108					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195512520	195512520	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr3:195512520C>T	uc021xjp.1	-	1	6087	c.5931G>A	c.(5929-5931)gtG>gtA	p.V1977V	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	737					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGACACTGAGGAAG	0.597000													5	120					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561841	145561841	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:145561841G>A	uc001eob.1	+	9	1637	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	ANKRD35_uc010oyx.1_Missense_Mutation_p.R353Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	510								p.R510R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCTGCCCGGGGGGCTTTG	0.632000													9	76					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51828388	51828388	+	Silent	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:51828388T>G	uc010ufy.2	-	11	2514	c.2289A>C	c.(2287-2289)ccA>ccC	p.P763P	DMXL2_uc002abf.3_Silent_p.P763P|DMXL2_uc010bfa.3_Silent_p.P763P	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	763						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAATGAGAGTTGGAAGCCAAG	0.358000													4	77					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	102100555	102100555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:102100555G>T	uc001pgt.3	+	8	1787	c.1399G>T	c.(1399-1401)Gga>Tga	p.G467*	YAP1_uc001pgu.3_Nonsense_Mutation_p.G451*|YAP1_uc001pgv.3_Nonsense_Mutation_p.G413*|YAP1_uc021qpf.1_Nonsense_Mutation_p.G429*|YAP1_uc010ruo.2_Nonsense_Mutation_p.G289*|YAP1_uc001pgw.2_Nonsense_Mutation_p.G291*|YAP1_uc010rup.1_Nonsense_Mutation_p.G232*	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	467	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GAACATAGAAGGAGAGGAGCT	0.483000													14	73					4.93089e-13	5.94967e-13	1	1	0
UBR5	51366	broad.mit.edu	37	8	103287958	103287958	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr8:103287958T>C	uc003ykr.2	-	45	7063	c.6608A>G	c.(6607-6609)gAt>gGt	p.D2203G	UBR5_uc003yks.2_Missense_Mutation_p.D2203G	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2203					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTCCAACATCTTCCATGAA	0.418000													9	90					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:203821508C>G	uc001hac.3	+	19	3030	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_uc001had.3_Nonsense_Mutation_p.S805*|ZC3H11A_uc001hae.3_Nonsense_Mutation_p.S805*|ZC3H11A_uc001haf.3_Nonsense_Mutation_p.S805*|ZC3H11A_uc010pqm.2_Nonsense_Mutation_p.S751*	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(6)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													5	184					0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238494741	238494741	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:238494741C>A	uc002vwz.2	-	1	720	c.57G>T	c.(55-57)gtG>gtT	p.V19V	RAB17_uc002vxb.2_Non-coding_Transcript	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	Homo sapiens RAB17, member RAS oncogene family (RAB17), transcript variant 1, mRNA.	19			V -> A (in dbSNP:rs3751112).		protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CCAGCTTGAACACACGGGGCT	0.597000													15	86					2.48551e-13	3.02403e-13	1	1	0
HDLBP	3069	broad.mit.edu	37	2	242173343	242173343	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:242173343G>A	uc002waz.3	-	23	3353	c.3180C>T	c.(3178-3180)gaC>gaT	p.D1060D	HDLBP_uc002wba.3_Silent_p.D1060D|HDLBP_uc021vzg.1_Silent_p.D1027D	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	1060	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGTATTTGGGGTCTACAGTGA	0.468000													4	70					0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71931977	71931977	+	Missense_Mutation	SNP	A	A	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:71931977A>C	uc009yte.3	+	2	377	c.214A>C	c.(214-216)Acc>Ccc	p.T72P	FOLR2_uc009ytf.3_Missense_Mutation_p.T72P|FOLR2_uc009ytd.3_Missense_Mutation_p.T72P|FOLR2_uc001ose.4_Missense_Mutation_p.T72P	NM_001113535	NP_001107008	P14207	FOLR2_HUMAN	Homo sapiens folate receptor 2 (fetal) (FOLR2), transcript variant 3, mRNA.	72					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GCACAAGGACACCTCCCGCCT	0.592000													4	62					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625315	33625315	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:33625315C>T	uc001bxb.3	-	2	1373	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	245						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CCACCCCAGCCAGGAAGGTGT	0.682000													3	11					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41889417	41889417	+	Silent	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr6:41889417T>G	uc003orl.3	+	0	453	c.117T>G	c.(115-117)ggT>ggG	p.G39G	MED20_uc003orj.3_5'Flank|MED20_uc003ork.3_5'Flank|MED20_uc011duh.2_5'Flank|MED20_uc011dui.2_5'Flank|MED20_uc011duj.2_5'Flank	NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	39					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCGGCGGGGTCGCGGGACAG	0.687000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	57					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049049	143049049	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr7:143049049G>A	uc003wcr.1	+	22	3045	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L	CLCN1_uc011ktc.1_Silent_p.L598L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	986					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGATGAACTGATCCTTTGAC	0.617000													20	70					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75705130	75705130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:75705130G>A	uc002bai.3	-	4	989	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	SIN3A_uc002baj.3_Nonsense_Mutation_p.Q244*|SIN3A_uc010uml.2_Nonsense_Mutation_p.Q244*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	244	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGTGggggctgaggagctggc	0.552000													10	63					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647553	130647553	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr12:130647553C>A	uc001uii.3	+	0	550	c.66C>A	c.(64-66)agC>agA	p.S22R	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	22					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S22R(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCCATCAGCTCCATGGACA	0.667000													5	53					0.00829132	0.00877197	1	1	0
AGXT2L2	85007	broad.mit.edu	37	5	177649897	177649897	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr5:177649897T>C	uc003miz.3	-	6	909	c.657A>G	c.(655-657)ggA>ggG	p.G219G	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Silent_p.G178G|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Silent_p.G77G	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	219						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGATCTGCCCTCCCACACTGG	0.582000													5	53					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224781	55224781	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:55224781G>T	uc021ont.1	-	0	54	c.54C>A	c.(52-54)agC>agA	p.S18R	PARS2_uc001cxy.3_Missense_Mutation_p.S18R	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	18					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	p.S18R(2)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGAGCTGGCGGCTGCAGGTGG	0.602000													6	52					0.00116845	0.00127308	1	1	0
GTF2A1	2957	broad.mit.edu	37	14	81659105	81659105	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr14:81659105T>A	uc001xvf.1	-	6	1123	c.691A>T	c.(691-693)Aat>Tat	p.N231Y	GTF2A1_uc010atb.1_Missense_Mutation_p.N181Y|GTF2A1_uc001xvg.1_Missense_Mutation_p.N192Y	NM_015859	NP_963889	P52655	TF2AA_HUMAN	Homo sapiens general transcription factor IIA, 1, 19/37kDa (GTF2A1), transcript variant 1, mRNA.	231					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|TBP-class protein binding|protein binding|protein heterodimerization activity|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TGAGTCTTATTTCCTGTAAAT	0.502000													7	57					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642221	111642221	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr10:111642221G>A	uc001kyp.2	-	9	1130	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	XPNPEP1_uc009xxt.2_Missense_Mutation_p.A337V|XPNPEP1_uc001kyq.2_Missense_Mutation_p.A223V|XPNPEP1_uc010qrb.2_Missense_Mutation_p.A337V|XPNPEP1_uc010qra.1_Missense_Mutation_p.A61V	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	294					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AGCATAGCTGGCCTTGTCACT	0.567000													3	53					0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110873286	110873286	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:110873286G>A	uc002tfk.3	-	0	858	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MALL_uc010fju.3_Non-coding_Transcript	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	28	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GGAAGAAGGCGAAAGGGATGG	0.726000													18	130					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423580	72423580	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:72423580C>G	uc001osu.3	-	5	970	c.781G>C	c.(781-783)Gtg>Ctg	p.V261L	ARAP1_uc001osv.3_Missense_Mutation_p.V261L|ARAP1_uc001osr.3_Missense_Mutation_p.V21L|ARAP1_uc001oss.3_Missense_Mutation_p.V16L|ARAP1_uc009yth.3_Missense_Mutation_p.V16L|ARAP1_uc010rre.2_Missense_Mutation_p.V16L	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	261					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCCACGCGCACGGCCCGTGGG	0.667000													3	38					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr7:144060770T>C	uc003wel.3	+	1	1126	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_uc003wek.3_Silent_p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.N336N(10)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000													5	260					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350728	79350728	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:79350728A>T	uc002beq.3	-	2	854	c.479T>A	c.(478-480)cTt>cAt	p.L160H	RASGRF1_uc002bep.3_Missense_Mutation_p.L160H|RASGRF1_uc010blm.1_Missense_Mutation_p.L82H|RASGRF1_uc002ber.4_Missense_Mutation_p.L160H	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	160					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGCTGCCGAAGCTGCTTGGC	0.602000													4	34					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6084205	6084205	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr7:6084205T>G	uc003spp.3	-	6	864	c.718A>C	c.(718-720)Att>Ctt	p.I240L	EIF2AK1_uc003spq.3_Missense_Mutation_p.I240L|EIF2AK1_uc011jwm.1_Missense_Mutation_p.I116L|EIF2AK1_uc003spr.1_Missense_Mutation_p.I32L	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	240	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CGTGGCTGAATCACATGAACA	0.468000													6	30					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19288499	19288499	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr17:19288499C>T	uc002gvs.3	-	4	606	c.505G>A	c.(505-507)Gct>Act	p.A169T	MFAP4_uc002gvt.3_Missense_Mutation_p.A145T	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	145	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGAAGTCAGCGTACTTGGCA	0.577000													3	86					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166890003	166890003	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:166890003C>T	uc001gdx.2	-	8	1881	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	609						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TAGGGCAGGTCGCGGCCGCGG	0.687000													6	19					0	0	1	0	0
VHDJH	0	broad.mit.edu	37	16	32077601	32077601	+	RNA	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr16:32077601G>A	uc010vfu.2	+	0		c.32G>A								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		CCATCTCCAGGGACAACGCCA	0.502000													5	168					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72413388	72413388	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr4:72413388T>C	uc010iic.3	+	19	2762	c.2645T>C	c.(2644-2646)cTt>cCt	p.L882P	SLC4A4_uc003hfy.3_Missense_Mutation_p.L882P|SLC4A4_uc010iib.3_Intron|SLC4A4_uc003hfz.3_Missense_Mutation_p.L882P|SLC4A4_uc003hgc.4_Missense_Mutation_p.L838P|SLC4A4_uc010iid.3_Missense_Mutation_p.L86P	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	882						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACTGGAACCCTTGTGTTTATT	0.373000													6	63					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13307840	13307840	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr6:13307840A>T	uc003naj.3	-	5	765	c.657T>A	c.(655-657)agT>agA	p.S219R	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.S219R|TBC1D7_uc003nan.3_Missense_Mutation_p.S219R|TBC1D7_uc003nam.3_Missense_Mutation_p.S219R|TBC1D7_uc003nao.3_Missense_Mutation_p.S192R|TBC1D7_uc010jpd.3_Missense_Mutation_p.S173R	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	219	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GCCTCTGTAAACTGGATTCAG	0.478000													3	42					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137088931	137088931	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr5:137088931G>A	uc003lbt.3	-	0	1109	c.825C>T	c.(823-825)ggC>ggT	p.G275G	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	275	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding	p.G275G(2)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			Tgcctccaccgccgccgccgc	0.632000													4	62					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162688920	162688920	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:162688920G>C	uc001gcf.3	+	3	532	c.67G>C	c.(67-69)Gct>Cct	p.A23P	DDR2_uc001gcg.3_Missense_Mutation_p.A23P	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	23					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TTCTGCAAAAGCTCAGGTTAA	0.453000													3	49					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr16:70268081G>A	uc010cfp.1	-	2		c.334C>T								Homo sapiens cDNA, FLJ98908.																		TCTTACTGTTGGCTAAAAGGC	0.373000													3	70					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27702392	27702392	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:27702392T>A	uc002rku.3	-	9	1040	c.989A>T	c.(988-990)tAt>tTt	p.Y330F	IFT172_uc002rkv.3_Splice_Site_p.Y330_splice|IFT172_uc010yls.2_Missense_Mutation_p.Y309F|IFT172_uc010ezc.3_Missense_Mutation_p.Y330F	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	330					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGGTCCCACATACGTCAACTC	0.507000													11	71					0	0	1	0	0
RP2	6102	broad.mit.edu	37	X	46696623	46696623	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chrX:46696623G>T	uc004dgw.4	+	0	277	c.88G>T	c.(88-90)Gat>Tat	p.D30Y		NM_006915	NP_008846	O75695	XRP2_HUMAN	Homo sapiens retinitis pigmentosa 2 (X-linked recessive) (RP2), mRNA.	30	C-CAP/cofactor C-like.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell morphogenesis|protein folding|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GTACAGCTGGGATCAGCGCGA	0.657000													50	121					1.08114e-33	1.33768e-33	1	1	0
FRMD8	83786	broad.mit.edu	37	11	65168213	65168213	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:65168213C>T	uc001odu.4	+	8	1138	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	FRMD8_uc009yqj.3_Missense_Mutation_p.R260C|FRMD8_uc010rof.2_Missense_Mutation_p.R282C	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	316	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GCTGGGCCTGCGCTTCCAGGA	0.657000													11	54					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62954577	62954577	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr12:62954577T>A	uc001sre.3	+	25	4107	c.3716T>A	c.(3715-3717)cTa>cAa	p.L1239Q	MON2_uc010ssn.2_Missense_Mutation_p.L1239Q|MON2_uc009zqj.3_Missense_Mutation_p.L1239Q|MON2_uc010ssl.2_Missense_Mutation_p.L1167Q|MON2_uc010ssm.2_Missense_Mutation_p.L1216Q|MON2_uc001srf.3_Missense_Mutation_p.L1002Q|MON2_uc001srg.3_Missense_Mutation_p.L114Q	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1240					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GATTTGAATCTATGGTGGGCT	0.393000													21	75					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237358	56237358	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:56237358T>A	uc010rjk.2	-	0	657	c.616A>T	c.(616-618)Aca>Tca	p.T206S	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGGGAATATGTGAAGTTAATG	0.428000													18	140					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38463363	38463363	+	Silent	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:38463363G>T	uc001cck.3	-	4	860	c.681C>A	c.(679-681)ccC>ccA	p.P227P	FHL3_uc001ccm.3_Silent_p.P119P	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	227	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACCTACGATGGGGCGCTTGC	0.592000													3	52					0.150653	0.154897	1	1	0
IFIT5	24138	broad.mit.edu	37	10	91177012	91177012	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr10:91177012A>G	uc010qnh.2	+	1	287	c.56A>G	c.(55-57)cAt>cGt	p.H19R	LIPA_uc001kgb.4_5'Flank|LIPA_uc001kgc.4_5'Flank|IFIT5_uc010qng.1_Missense_Mutation_p.H19R	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	19							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TTAGAATGTCATTTTACATGG	0.318000													13	92					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56083837	56083837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr17:56083837G>T	uc002ivi.3	-	1	455	c.246C>A	c.(244-246)taC>taA	p.Y82*	SRSF1_uc002ivj.3_Nonsense_Mutation_p.Y82*	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA.	82	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding|nucleotide binding	p.Y82*(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCGCAGACGGTACCCATCGT	0.637000													18	150					1.33834e-09	1.58859e-09	1	1	0
CREBRF	153222	broad.mit.edu	37	5	172518246	172518246	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr5:172518246A>T	uc003mch.3	+	3	1383	c.1064A>T	c.(1063-1065)gAa>gTa	p.E355V	CREBRF_uc003mcf.3_Missense_Mutation_p.E355V|CREBRF_uc003mcg.3_Missense_Mutation_p.E355V|CREBRF_uc011dfd.1_Missense_Mutation_p.E355V	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	355	Glu-rich.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TGCAGTCCtgaagaagatgag	0.443000													30	123					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46918387	46918387	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr21:46918387G>T	uc010gpy.1	-	5	1757	c.1433C>A	c.(1432-1434)gCg>gAg	p.A478E	COL18A1_uc002zhg.3_Intron|COL18A1_uc002zhi.3_Intron	NM_001205206	NP_001192135	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 2, mRNA.	0					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CACGGTCCCCGCTCGCCGCCA	0.746000													3	80					1	1	1	1	0
MRPS31	10240	broad.mit.edu	37	13	41323388	41323388	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr13:41323388A>T	uc001uxm.4	-	5	919	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	282						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TGCTTAGCAAATTCCACATCC	0.368000													7	66					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277127	48277127	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr17:48277127G>A	uc002iqm.3	-	1	411	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	95	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGCCGTCGGGGCAGACGGGAC	0.726000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	35					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91811	91811	+	RNA	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chrGL000211.1:91811A>G	uc003bnz.1	+	6		c.1167A>G			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TAGTGTGTTTACATTTGTTTT	0.363000													3	38					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858489	9858489	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr16:9858489T>C	uc010uym.2	-	13	3222	c.2912A>G	c.(2911-2913)cAg>cGg	p.Q971R	GRIN2A_uc002czo.4_Missense_Mutation_p.Q971R|GRIN2A_uc010uyn.2_Missense_Mutation_p.Q814R|GRIN2A_uc002czr.4_Missense_Mutation_p.Q971R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	971					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R970W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTATCCTTCTGCCGGTTGGC	0.468000													27	53					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226194	2226194	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:2226194C>T	uc002lvc.1	+	12	2323	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	DOT1L_uc002lvb.4_Missense_Mutation_p.A1225V	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1225						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCTTGGCGGGAAGGAAG	0.677000													10	36					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090738	143090738	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr6:143090738G>T	uc003qjd.3	-	4	5881	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCGGTTCCAGGCCTATGCAT	0.433000													11	64					8.60227e-14	1.05541e-13	1	1	0
ISL1	3670	broad.mit.edu	37	5	50680410	50680410	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr5:50680410A>G	uc003jor.3	+	1	612	c.64A>G	c.(64-66)Aat>Gat	p.N22D		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	22	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGGTTGCGGCAATCAGATTCA	0.393000													40	115					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19416711	19416711	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:19416711T>C	uc002nmh.3	-	3	501	c.485A>G	c.(484-486)cAg>cGg	p.Q162R	SUGP1_uc002nmg.3_5'Flank|SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	162					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTCAGGGGACTGGAAGACACT	0.662000													3	40					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr21:46011400G>A	uc002zfm.3	-	0	987	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	322	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S322S(10)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692000													5	83					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807653	1807653	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr4:1807653T>A	uc003gdr.3	+	12	2078	c.1822T>A	c.(1822-1824)Ttg>Atg	p.L608M	FGFR3_uc003gdu.2_Missense_Mutation_p.L610M|FGFR3_uc003gds.3_Missense_Mutation_p.L496M|FGFR3_uc003gdq.3_Missense_Mutation_p.L609M	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	608	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CATGGAGTACTTGGCCTCCCA	0.662000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				15	32					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31373395	31373395	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr16:31373395G>A	uc002ebt.3	+	11	1154	c.1087_splice	c.e11-1	p.D363_splice	ITGAX_uc002ebu.1_Splice_Site_p.D363_splice|ITGAX_uc010vfk.1_Splice_Site_p.D13_splice	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	363					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTTTCTCCCAGGATGGCCCCG	0.592000													9	58					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974843	16974843	+	RNA	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:16974843C>T	uc010och.2	+	6		c.1303C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TCAGCAAGACCCGCAAGGGTG	0.746000													4	57					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488770	20488770	+	RNA	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:20488770A>G	uc001ytf.1	+	1		c.253A>G								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGGGCACTCCAAGATTTTGGG	0.408000													6	273					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128933815	128933815	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:128933815A>G	uc009zcp.3	-	7	825	c.825T>C	c.(823-825)ccT>ccC	p.P275P	ARHGAP32_uc009zcq.2_Silent_p.P235P|ARHGAP32_uc001qfb.3_Silent_p.P60P	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	275	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCAGTTCGTCAGGGGCCCGAG	0.433000													20	100					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302198	7302198	+	Silent	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr12:7302198T>C	uc001qss.3	+	12	2728	c.2190T>C	c.(2188-2190)gaT>gaC	p.D730D	CLSTN3_uc001qsr.3_Silent_p.D718D	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	718					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ATGACCTGGATCCCGAGCGGG	0.572000													17	39					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6500712	6500712	+	Silent	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:6500712C>G	uc001amy.3	+	3	870	c.702C>G	c.(700-702)tcC>tcG	p.S234S		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	234					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGCCTGTCCGAGCAGGACA	0.741000													3	8					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186316562	186316562	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:186316562A>G	uc001grv.3	-	21	3102	c.2805T>C	c.(2803-2805)gaT>gaC	p.D935D	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	935					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCACAAGATCATCCACATCTT	0.368000			T	NTRK1	papillary thyroid								3	59					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73796809	73796809	+	Missense_Mutation	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:73796809C>G	uc001ouu.2	-	20	3991	c.3764G>C	c.(3763-3765)tGt>tCt	p.C1255S	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1255	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCAGAAAGAACAGGCCACAGG	0.547000													17	99					0	0	1	0	0
TRIM77P	390231	broad.mit.edu	37	11	89450802	89450802	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:89450802C>A	uc010rtw.2	+	5	1115	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y		NM_001146162	NP_001139634			Homo sapiens tripartite motif containing 77, pseudogene (TRIM77P), mRNA.																		CGACTTGACTCTGAGGGTATC	0.468000													5	68					3.59834e-05	4.04121e-05	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56421988	56421988	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:56421988G>A	uc010ygg.2	-	5	2248	c.2223C>T	c.(2221-2223)tcC>tcT	p.S741S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	741							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTTCACAGAGGAAGCATGAA	0.463000													6	105					0	0	1	0	0
TMEM115	11070	broad.mit.edu	37	3	50396218	50396218	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr3:50396218A>G	uc003dan.1	-	0	722	c.277T>C	c.(277-279)Tgg>Cgg	p.W93R	Mir_324_uc021wyp.1_5'Flank	NM_007024	NP_008955	Q12893	TM115_HUMAN	Homo sapiens transmembrane protein 115 (TMEM115), mRNA.	93					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGGCCCCCCAGAGGGGCTCC	0.622000													10	65					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515353	195515353	+	Missense_Mutation	SNP	T	T	G	rs13065435	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr3:195515353T>G	uc021xjp.1	-	1	3254	c.3098A>C	c.(3097-3099)gAa>gCa	p.E1033A	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1034	Repeat.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATTCTGAGGAAGT	0.567000													3	43					0	0	1	0	0
CCDC117	150275	broad.mit.edu	37	22	29176936	29176936	+	Splice_Site	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr22:29176936T>A	uc003aeb.3	+	3	416	c.240_splice	c.e3-1	p.D80_splice	CCDC117_uc011aki.2_Splice_Site_p.R62_splice|CCDC117_uc011akj.2_Intron|CCDC117_uc011akk.2_Splice_Site	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	Homo sapiens coiled-coil domain containing 117 (CCDC117), mRNA.	80										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TTTTTTTCAGTTGTCCAGTAA	0.338000													9	85					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832185	86832185	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:86832185A>G	uc002srn.3	-	3	1830	c.839T>C	c.(838-840)aTt>aCt	p.I280T	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.I141T|RNF103_uc021vkg.1_Missense_Mutation_p.I276T|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	280					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ATATATGCCAATATCTGTCAT	0.353000													8	113					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904114	21904114	+	RNA	SNP	A	A	G	rs75848292		TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr17:21904114A>G	uc002gza.2	+	0		c.53A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccggctgccaggagtcgcaa	0.687000													4	50					0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457835	45457835	+	RNA	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr12:45457835C>T	uc001rol.3	-	0		c.1360G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TTTGTTTAGGCGAAAGGTCAG	0.453000													8	72					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85361150	85361150	+	Silent	SNP	C	C	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:85361150C>G	uc002soy.3	+	1	486	c.261C>G	c.(259-261)cgC>cgG	p.R87R		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	87					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R87H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGGAGAGGCGCCCGCAGCCCG	0.697000													14	83					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277128	48277128	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr17:48277128C>T	uc002iqm.3	-	1	410	c.284G>A	c.(283-285)tGc>tAc	p.C95Y		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	95	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCGTCGGGGCAGACGGGACA	0.731000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	35					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121706046	121706046	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr8:121706046C>T	uc010mdg.3	-	1	900	c.674G>A	c.(673-675)aGc>aAc	p.S225N	SNTB1_uc003ype.3_Missense_Mutation_p.S225N	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	225	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCTGAGGTGCTGCCCCCTAA	0.572000													3	75					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65631192	65631192	+	Splice_Site	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:65631192G>A	uc001ofv.4	+	9	1314	c.961_splice	c.e9+1	p.A321_splice	MUS81_uc001ofx.4_Splice_Site	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	321	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TAGAGACCCAGGTGAAGGGCC	0.637000								Homologous recombination					17	74					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34895341	34895341	+	Silent	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:34895341G>T	uc002nvj.3	+	0	39	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	2						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGCCATGGCGGCCGTTCTGA	0.662000													3	50					0.115264	0.119351	1	1	0
USH1C	10083	broad.mit.edu	37	11	17542471	17542471	+	Missense_Mutation	SNP	A	A	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:17542471A>C	uc001mnf.3	-	13	1265	c.1156T>G	c.(1156-1158)Ttg>Gtg	p.L386V	USH1C_uc001mne.3_Missense_Mutation_p.L386V|USH1C_uc009yhb.3_Missense_Mutation_p.L367V|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.L350V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	386					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTTTTAGGCAAGAGTAGCTGT	0.488000													9	62					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191110	6191110	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:6191110G>A	uc010qzy.2	-	0	447	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGATGACGGCCAGAGCAA	0.517000													4	44					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228131751	228131751	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:228131751G>T	uc002vom.2	+	22	1613	c.1451G>T	c.(1450-1452)gGg>gTg	p.G484V	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	484	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TATATCCCAGGGCCTCCCGGT	0.468000													12	46					4.3838e-07	5.12028e-07	1	1	0
SHF	90525	broad.mit.edu	37	15	45490984	45490984	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:45490984G>T	uc001zuy.3	-	1	784	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	TRNA_uc021skk.1_5'Flank|TRNA_uc021skl.1_5'Flank	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	97										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CGAGGTTCCAGCCTGTCCCTG	0.542000											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	33					0.115264	0.119351	1	1	0
CR1L	1379	broad.mit.edu	37	1	207890832	207890832	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:207890832G>T	uc001hga.4	+	10	1559	c.1438G>T	c.(1438-1440)Gct>Tct	p.A480S	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	480	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAATCCTCCAGCTATCCTTAA	0.413000													5	169					0.00116845	0.00127308	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111117912	111117912	+	Missense_Mutation	SNP	T	T	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr13:111117912T>A	uc001vqx.3	+	24	2226	c.1937T>A	c.(1936-1938)tTc>tAc	p.F646Y		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	646	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCACCAGGCTTCCTGGGCCCT	0.597000													11	96					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47361658	47361658	+	Silent	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr20:47361658G>A	uc002xtw.1	-	2	341	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	106	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAACTTCCAGGATGTCTTCGA	0.473000													17	52					0	0	1	0	0
EP400NL	347918	broad.mit.edu	37	12	132588613	132588613	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr12:132588613G>T	uc001ujv.3	+	0	72	c.48G>T	c.(46-48)tgG>tgT	p.W16C	EP400NL_uc001ujr.2_Missense_Mutation_p.W16C|EP400NL_uc001ujs.4_Missense_Mutation_p.W16C|EP400NL_uc009zyq.3_Missense_Mutation_p.W16C|EP400NL_uc001ujt.3_Missense_Mutation_p.W16C|EP400NL_uc001ujw.1_5'Flank					Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						ATGTCCAGTGGCCTGGGGCCT	0.622000													5	118					8.12818e-05	8.99026e-05	1	1	0
GSTT1	2952	broad.mit.edu	37	22	24384206	24384206	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr22:24384206A>T	uc002zze.4	-	0	79	c.26T>A	c.(25-27)cTg>cAg	p.L9Q	GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_5'UTR|GSTT1_uc010guh.3_Non-coding_Transcript|GSTT1_uc010gui.1_Non-coding_Transcript	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	9	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CTGGGACAGCAGGTCCAGGTA	0.592000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				19	52					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41166547	41166547	+	Silent	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr8:41166547G>T	uc003xnt.3	-	0	444	c.132C>A	c.(130-132)ggC>ggA	p.G44G		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	44					DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding	p.G44G(3)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCTGGTACGGGCCGATGTCCG	0.687000													5	27					0.184627	0.188501	1	1	0
CYP4F30P	100132708	broad.mit.edu	37	2	131447731	131447731	+	RNA	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:131447731G>A	uc002tru.1	+	3		c.1440G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene (CYP4F30P), non-coding RNA.																		TATAGACAACGCCATTATTGA	0.423000													6	5					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383064	31383064	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr16:31383064G>A	uc002ebt.3	+	16	2186	c.2119G>A	c.(2119-2121)Ggg>Agg	p.G707R	ITGAX_uc002ebu.1_Missense_Mutation_p.G707R	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	707					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCGAGTCCTCGGGCTGAAGGC	0.652000													5	47					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113418053	113418053	+	Missense_Mutation	SNP	T	T	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:113418053T>C	uc002tib.3	+	8	2236	c.1697T>C	c.(1696-1698)cTc>cCc	p.L566P	SLC20A1_uc002tic.1_Missense_Mutation_p.L378P	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	566					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCTTCTACTCTATGGTGGT	0.458000													24	122					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904174	21904174	+	RNA	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr17:21904174G>A	uc002gza.2	+	0		c.113G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gggaagcagcgtggcatccca	0.677000													3	71					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362441	228362441	+	Missense_Mutation	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:228362441C>A	uc001hsl.4	+	1	479	c.390C>A	c.(388-390)agC>agA	p.S130R	IBA57_uc010pvw.2_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	130					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.S130R(4)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGTGTGACAGCTCGGTGCAGG	0.662000													7	38					0.00198382	0.00214546	1	1	0
SVOPL	136306	broad.mit.edu	37	7	138344645	138344645	+	Missense_Mutation	SNP	G	G	A	rs139868586	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr7:138344645G>A	uc011kqh.2	-	4	434	c.434C>T	c.(433-435)aCg>aTg	p.T145M	SVOPL_uc003vue.3_Intron	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	145						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCCACCATCGTCCGCAGGAA	0.552000													9	65					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429158	57429158	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr20:57429158G>A	uc002xzw.3	+	0	1123	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0			R -> G (in PHP1A).|R -> K (in PHP1A).		G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGTCCCAGGCGCCATCGGCAG	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	92					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237348	56237348	+	Missense_Mutation	SNP	A	A	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:56237348A>T	uc010rjk.2	-	0	667	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATTACAGTCAGGGAATATGT	0.438000													18	138					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331710	85331710	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:85331710T>G	uc001dkl.2	-	0	133	c.94A>C	c.(94-96)Att>Ctt	p.I32L	LPAR3_uc009wcj.1_Missense_Mutation_p.I32L	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	32					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CACAAAACAATCACAAGCTTT	0.383000													5	257					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57100282	57100282	+	Silent	SNP	C	C	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:57100282C>A	uc001njt.3	-	5	852	c.585G>T	c.(583-585)acG>acT	p.T195T	SSRP1_uc010rjq.1_Silent_p.T195T	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	195					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGGCATCTCCCGTGGCCTGGA	0.562000													12	53					2.61681e-11	3.1316e-11	1	1	0
DST	667	broad.mit.edu	37	6	56505044	56505044	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr6:56505044C>T	uc003pcy.4	-	3	884	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	DST_uc021zay.1_Missense_Mutation_p.R625Q|DST_uc011dxl.1_Missense_Mutation_p.R614Q|DST_uc021zax.1_Missense_Mutation_p.R259Q|DST_uc003pdc.4_Missense_Mutation_p.R259Q|DST_uc003pdd.4_Missense_Mutation_p.R259Q|DST_uc003pde.2_Missense_Mutation_p.R701Q	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	585					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGGGGTTTTCGGATCTGCAT	0.368000													8	110					0	0	1	0	0
CTSL1	1514	broad.mit.edu	37	9	90344596	90344596	+	Missense_Mutation	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr9:90344596C>T	uc004api.3	+	5	935	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	CTSL1_uc004aph.3_Missense_Mutation_p.P244S|CTSL1_uc010mqh.3_Missense_Mutation_p.P62S|CTSL1_uc004apl.3_Missense_Mutation_p.P244S|CTSL1_uc004apk.3_Missense_Mutation_p.P244S	NM_145918	NP_666023	P07711	CATL1_HUMAN	Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA.	244					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)	19					Glucagon recombinant(DB00040)	AACTGTGGGGCCCATTTCTGT	0.428000													16	55					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679366	43679366	+	Splice_Site	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr19:43679366C>T	uc002ovu.3	-	4	1095	c.964_splice	c.e4+1	p.A322_splice	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Splice_Site_p.A322_splice	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	322					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GATCCACTTACCAGAGACTTC	0.463000													12	93					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554007	152554007	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr3:152554007A>G	uc003ezq.3	+	0	1272	c.436A>G	c.(436-438)Agt>Ggt	p.S146G		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GACATGCATCAGTGCCCACCG	0.507000													4	76					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76183839	76183839	+	Missense_Mutation	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:76183839G>T	uc001oxl.3	+	7	1206	c.1063G>T	c.(1063-1065)Gtg>Ttg	p.V355L	C11orf30_uc009yuj.1_Missense_Mutation_p.V370L|C11orf30_uc010rsa.1_Missense_Mutation_p.V305L|C11orf30_uc001oxm.3_Missense_Mutation_p.V356L|C11orf30_uc010rsb.2_Missense_Mutation_p.V370L|C11orf30_uc010rsc.2_Missense_Mutation_p.V370L|C11orf30_uc001oxn.3_Missense_Mutation_p.V356L|C11orf30_uc010rsd.2_Missense_Mutation_p.V369L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	355	Interaction with BRCA2.|Ser-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGTAACAGCTGTGGTGTCCTC	0.433000													3	94					6.4e-05	7.13282e-05	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156879832	156879832	+	Missense_Mutation	SNP	G	G	A			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:156879832G>A	uc001fqj.1	+	12	1726	c.1610G>A	c.(1609-1611)tGt>tAt	p.C537Y	PEAR1_uc001fqk.1_Missense_Mutation_p.C162Y	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	537						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGTCGCTGTGACTGTGAC	0.627000													3	17					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999075	112999075	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:112999075A>G	uc001ebx.3	+	5	1189	c.961A>G	c.(961-963)Aga>Gga	p.R321G	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	321						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGCAGAAAGAACCCATGG	0.483000													18	84					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32156280	32156280	+	Splice_Site	SNP	G	G	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr6:32156280G>T	uc003oav.1	-	3	567	c.296_splice	c.e3-1	p.G99_splice	PBX2_uc003oaw.3_Splice_Site_p.G99_splice	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	99							transcription factor binding	p.G99G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATGCTGAGGCCTAGCATGC	0.612000													6	54					3.59834e-05	4.04121e-05	1	1	0
SETD3	84193	broad.mit.edu	37	14	99929881	99929881	+	Silent	SNP	C	C	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr14:99929881C>T	uc001ygc.3	-	2	308	c.138G>A	c.(136-138)gaG>gaA	p.E46E	SETD3_uc001ygd.3_Silent_p.E46E|SETD3_uc021sbn.1_Silent_p.E46E|SETD3_uc001ygf.3_Silent_p.E46E	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	46					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ACTCTTCCCACTCTTTTCCTG	0.413000													9	39					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072290	197072290	+	Missense_Mutation	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:197072290A>G	uc001gtu.3	-	17	6348	c.6091T>C	c.(6091-6093)Tat>Cat	p.Y2031H	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2031	IQ 14.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATACCACGATAAGCTGACTGT	0.328000													16	73					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31197838	31197838	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:31197838T>G	uc001zff.3	+	1	1263	c.972T>G	c.(970-972)caT>caG	p.H324Q	FAN1_uc001zfc.3_Missense_Mutation_p.H324Q|FAN1_uc010azw.2_Missense_Mutation_p.H324Q|FAN1_uc001zfd.3_Missense_Mutation_p.H324Q|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	324					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAAAATCTCATAGTTCTGCAG	0.418000								Direct reversal of damage					15	64					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948603	71948603	+	Silent	SNP	A	A	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:71948603A>G	uc001osf.3	+	25	3462	c.3315A>G	c.(3313-3315)ccA>ccG	p.P1105P	INPPL1_uc001osg.3_Silent_p.P863P	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1105	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCCCTCACCAGCCAGCACTT	0.692000													15	46					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221009	161221009	+	Missense_Mutation	SNP	T	T	G			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr3:161221009T>G	uc011bpb.2	+	3	713	c.713T>G	c.(712-714)aTg>aGg	p.M238R		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	238	Collagen-like 2.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						aagggggagatgggggataag	0.582000													4	70					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134060676	134060676	+	Missense_Mutation	SNP	G	G	C			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr5:134060676G>C	uc003kzs.3	+	22	3466	c.3174G>C	c.(3172-3174)gaG>gaC	p.E1058D	SEC24A_uc011cxu.2_Missense_Mutation_p.E822D	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	1058					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAGGGATGAGAGTCCAATGA	0.323000													40	315					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197878244	197878244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr2:197878244delG	uc021vuj.1	-	17	2108	c.1915delC	c.(1915-1917)catfs	p.H639fs	ANKRD44_uc002utz.4_Frame_Shift_Del_p.H346fs|ANKRD44_uc021vuk.1_Frame_Shift_Del_p.H614fs	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	639							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTGAGGCATGAAGTGGGGTT	0.443													31	104	---	---	---	---					
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:1038447_1038449delCAC	uc003jbt.1	+	9	1320_1322	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	447	His-rich.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.690													5	11	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14358383	14358385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr5:14358383_14358385delCAG	uc003jff.3	+	11	2149_2151	c.2143_2145delCAG	c.(2143-2145)cagdel	p.Q718del	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_In_Frame_Del_p.Q669del|TRIO_uc003jfh.1_In_Frame_Del_p.Q367del	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	718	Poly-Gln.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCTTTGGCCAGCAGCAGCAGA	0.631													7	227	---	---	---	---					
FOXF2	2295	broad.mit.edu	37	6	1391085	1391086	+	In_Frame_Ins	INS	-	-	GGC	rs58230522	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:1391085_1391086insGGC	uc003mtm.3	+	0	1017_1018	c.903_904insGGC	c.(901-906)insGGC	p.306_307insG		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	306	Poly-Gly.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|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			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		gtgcggccgggggcggcggcgg	0.748													5	10	---	---	---	---					
SESN1	27244	broad.mit.edu	37	6	109309823	109309823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr6:109309823delT	uc003psu.3	-	8	1924	c.1492delA	c.(1492-1494)actfs	p.T498fs	SESN1_uc021zdp.1_Frame_Shift_Del_p.T373fs|SESN1_uc003pst.4_Frame_Shift_Del_p.T439fs	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	439					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CAAACAACAGTTTTGATATAA	0.343													13	44	---	---	---	---					
RBAK	57786	broad.mit.edu	37	7	5112027	5112029	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr7:5112027_5112029delTGC	uc021zzc.1	+	4	455_457	c.273_275delTGC	c.(271-276)gttgct>gtt	p.A97del	RBAK_uc003snr.3_In_Frame_Del_p.C117del|LOC389458_uc010kst.3_In_Frame_Del_p.6_7LL>L	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN	Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCCCCgctgttgctgctgctgct	0.709													8	86	---	---	---	---					
TRPM3	80036	broad.mit.edu	37	9	73151135	73151136	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr9:73151135_73151136insT	uc004aid.3	-	24	5101_5102	c.4857_4858insA	c.(4855-4860)tcagagfs	p.S1619fs	TRPM3_uc004ahu.3_Frame_Shift_Ins_p.S1461fs|TRPM3_uc004ahv.3_Frame_Shift_Ins_p.S1421fs|TRPM3_uc004ahw.3_Frame_Shift_Ins_p.S1491fs|TRPM3_uc004ahx.3_Frame_Shift_Ins_p.S1478fs|TRPM3_uc004ahy.3_Frame_Shift_Ins_p.S1481fs|TRPM3_uc004ahz.3_Frame_Shift_Ins_p.S1468fs|TRPM3_uc004aia.3_Frame_Shift_Ins_p.S1466fs|TRPM3_uc004aib.3_Frame_Shift_Ins_p.S1456fs|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1644						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGGTTCTCTCTGAGTTATCAC	0.550													15	114	---	---	---	---					
SYVN1	84447	broad.mit.edu	37	11	64900251	64900251	+	Splice_Site	DEL	T	T	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr11:64900251delT	uc001odb.3	-	5	473	c.379_splice	c.e5-1	p.M127_splice	SYVN1_uc001odc.3_Splice_Site_p.M127_splice|SYVN1_uc009yqc.3_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	127					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGCGTTCCATCTGAGGCAGA	0.612													11	39	---	---	---	---					
ONECUT1	3175	broad.mit.edu	37	15	53081865	53081867	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	92ae44d5-c386-489b-b4aa-c3e169713c55	g.chr15:53081865_53081867delGGT	uc002aci.1	-	0	343_345	c.215_217delACC	c.(214-219)caccgg>cgg	p.H72del		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	72	Poly-His.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TCAGGGGCCCGGTGGTGGTGGTG	0.719													2	4	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	uc021ozo.1	+	0	163_186	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_uc001fax.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001faz.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001fay.2_Splice_Site_p.K60_splice	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.E95G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													20	93	---	---	---	---					
C1orf35	79169	broad.mit.edu	37	1	228289842	228289843	+	Frame_Shift_Ins	INS	-	-	C	rs1128456	by1000genomes	TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr1:228289842_228289843insC	uc001hrx.3	-	5	565_566	c.471_472insG	c.(469-474)gggcccfs	p.G157fs	C1orf35_uc009xew.3_Non-coding_Transcript	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	Homo sapiens chromosome 1 open reading frame 35 (C1orf35), mRNA.	157										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GAGGTCCCGGGCCCGCCGCTCT	0.743													10	31	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197878244	197878244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr2:197878244delG	uc021vuj.1	-	17	2108	c.1915delC	c.(1915-1917)catfs	p.H639fs	ANKRD44_uc002utz.4_Frame_Shift_Del_p.H346fs|ANKRD44_uc021vuk.1_Frame_Shift_Del_p.H614fs	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	639							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTGAGGCATGAAGTGGGGTT	0.443													31	104	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14358383	14358385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr5:14358383_14358385delCAG	uc003jff.3	+	11	2149_2151	c.2143_2145delCAG	c.(2143-2145)cagdel	p.Q718del	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_In_Frame_Del_p.Q669del|TRIO_uc003jfh.1_In_Frame_Del_p.Q367del	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	718	Poly-Gln.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCTTTGGCCAGCAGCAGCAGA	0.631													7	227	---	---	---	---					
SESN1	27244	broad.mit.edu	37	6	109309823	109309823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr6:109309823delT	uc003psu.3	-	8	1924	c.1492delA	c.(1492-1494)actfs	p.T498fs	SESN1_uc021zdp.1_Frame_Shift_Del_p.T373fs|SESN1_uc003pst.4_Frame_Shift_Del_p.T439fs	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	439					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CAAACAACAGTTTTGATATAA	0.343													13	44	---	---	---	---					
TRPM3	80036	broad.mit.edu	37	9	73151135	73151136	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr9:73151135_73151136insT	uc004aid.3	-	24	5101_5102	c.4857_4858insA	c.(4855-4860)tcagagfs	p.S1619fs	TRPM3_uc004ahu.3_Frame_Shift_Ins_p.S1461fs|TRPM3_uc004ahv.3_Frame_Shift_Ins_p.S1421fs|TRPM3_uc004ahw.3_Frame_Shift_Ins_p.S1491fs|TRPM3_uc004ahx.3_Frame_Shift_Ins_p.S1478fs|TRPM3_uc004ahy.3_Frame_Shift_Ins_p.S1481fs|TRPM3_uc004ahz.3_Frame_Shift_Ins_p.S1468fs|TRPM3_uc004aia.3_Frame_Shift_Ins_p.S1466fs|TRPM3_uc004aib.3_Frame_Shift_Ins_p.S1456fs|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1644						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGGTTCTCTCTGAGTTATCAC	0.550													15	114	---	---	---	---					
SYVN1	84447	broad.mit.edu	37	11	64900251	64900251	+	Splice_Site	DEL	T	T	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr11:64900251delT	uc001odb.3	-	5	473	c.379_splice	c.e5-1	p.M127_splice	SYVN1_uc001odc.3_Splice_Site_p.M127_splice|SYVN1_uc009yqc.3_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	127					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGCGTTCCATCTGAGGCAGA	0.612													11	39	---	---	---	---					
EIF3J	8669	broad.mit.edu	37	15	44829395	44829397	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:44829395_44829397delGGC	uc001ztv.3	+	0	130_132	c.3_5delGGC	c.(1-6)atggcg>atg	p.A8del	LOC645212_uc021skh.1_5'Flank|LOC645212_uc001ztu.3_5'Flank|EIF3J_uc010ueg.2_In_Frame_Del_p.A8del	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	8	Poly-Ala.|Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGCTCGAGATggcggcggcggcg	0.719													8	210	---	---	---	---					
ONECUT1	3175	broad.mit.edu	37	15	53081865	53081867	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-KV-A6GD-01A-11D-A31X-10	TCGA-KV-A6GD-11A-11D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	971ca777-b810-45b5-bcca-7100b2935d0f	87c751e6-703d-4d79-b7be-003784610055	g.chr15:53081865_53081867delGGT	uc002aci.1	-	0	343_345	c.215_217delACC	c.(214-219)caccgg>cgg	p.H72del		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	72	Poly-His.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TCAGGGGCCCGGTGGTGGTGGTG	0.719													2	4	---	---	---	---					
