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
RFTN2	130132	broad.mit.edu	37	2	198540158	198540158	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:198540158C>T	ENST00000295049.4	-	1	561	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane		p.E9K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCAGGGTCTTCTAGCTTTCTA	0.423000													74	189					0	0	0.870114	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606901	31606901	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:31606901C>G	ENST00000170150.3	+	10	1084	c.889C>G	c.(889-891)Ctg>Gtg	p.L297V		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	297						extracellular region	lipid binding	p.L297V(1)									CACCTCTGCTCTGGGCCGGCT	0.567000													27	203					0	0	0.729181	0	0
FLRT3	23767	broad.mit.edu	37	20	14307451	14307451	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:14307451C>G	ENST00000378053.3	-	2	958	c.702G>C	c.(700-702)cgG>cgC	p.R234R	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.R234R	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	234					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R234R(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCAGGGAATTCCGCACCAGGG	0.443000													12	99					0	0	0.435327	0	0
HEG1	57493	broad.mit.edu	37	3	124728594	124728594	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:124728594T>C	ENST00000311127.4	-	8	3215	c.3148A>G	c.(3148-3150)Aaa>Gaa	p.K1050E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1050	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding	p.K1050E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACCGGGCATTTGCAGATAAAG	0.428000													9	41					0	0	0.335167	0	0
CDH22	64405	broad.mit.edu	37	20	44879792	44879792	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:44879792C>T	ENST00000372262.3	-	1	542	c.142G>A	c.(142-144)Gga>Aga	p.G48R	CDH22_ENST00000537909.1_Missense_Mutation_p.G48R	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	48					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G48R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGCCGAGCTCCGGGCGCCGAC	0.746000													14	15					0	0	0.575678	0	0
STAG1	10274	broad.mit.edu	37	3	136088080	136088080	+	Silent	SNP	T	T	C	rs143784838	byFrequency	TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:136088080T>C	ENST00000383202.2	-	24	2671	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	STAG1_ENST00000236698.5_Silent_p.Q805Q|STAG1_ENST00000434713.2_Silent_p.Q579Q|STAG1_ENST00000536929.1_Silent_p.Q389Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	805					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.Q805Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTGTCATTAATTGGTGGCTGA	0.393000													18	84					0	0	0.557998	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61675662	61675662	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:61675662G>C	ENST00000394836.2	-	2	285	c.128C>G	c.(127-129)tCt>tGt	p.S43C	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S90C	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	43							protein binding	p.S43C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CTCCCCTGCAGAGGTCTCCAC	0.711000													3	11					0	0	0.115264	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716012	170716012	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:170716012G>A	ENST00000314251.3	-	10	1423	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SLC2A2_ENST00000382808.4_Silent_p.F329F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	448					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.F448F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAGCTACAATGAAATTGCAGG	0.458000													16	88					0	0	0.479597	0	0
ANK1	286	broad.mit.edu	37	8	41581117	41581117	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:41581117C>T	ENST00000396942.1	-	8	829	c.746G>A	c.(745-747)aGg>aAg	p.R249K	ANK1_ENST00000347528.4_Missense_Mutation_p.R249K|ANK1_ENST00000265709.8_Missense_Mutation_p.R282K|ANK1_ENST00000379758.2_Missense_Mutation_p.R249K|ANK1_ENST00000289734.7_Missense_Mutation_p.R249K|ANK1_ENST00000396945.1_Missense_Mutation_p.R249K|ANK1_ENST00000352337.4_Missense_Mutation_p.R249K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	249	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R249K(1)|p.R282K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACGTTGCCCCTGCGGGAGGC	0.637000													4	107					0	0	0.150653	0	0
RND3	390	broad.mit.edu	37	2	151326590	151326590	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:151326590G>A	ENST00000375734.2	-	5	895	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	RND3_ENST00000409557.1_Missense_Mutation_p.R87W|RND3_ENST00000263895.4_Missense_Mutation_p.R216W	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	216					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	p.R216W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGTGAAATCCGCTTTGTGGCT	0.438000													8	150					0	0	0.278610	0	0
SDHD	6392	broad.mit.edu	37	11	111959637	111959637	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:111959637C>T	ENST00000375549.3	+	3	351	c.216C>T	c.(214-216)gtC>gtT	p.V72V	SDHD_ENST00000526592.1_Silent_p.V72V|SDHD_ENST00000532699.1_Silent_p.V72V|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000528182.1_Silent_p.V72V|SDHD_ENST00000525291.1_Silent_p.V33V|SDHD_ENST00000528021.1_Silent_p.V72V	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	72					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	p.V72V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	AGAGGGTTGTCAGTGTTTTGC	0.498000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				22	63					0	0	0.608945	0	0
PAPD4	167153	broad.mit.edu	37	5	78964813	78964813	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:78964813C>G	ENST00000453514.1	+	12	1863	c.1170C>G	c.(1168-1170)ctC>ctG	p.L390L	PAPD4_ENST00000428308.2_Silent_p.L390L|PAPD4_ENST00000504233.1_Silent_p.L347L|PAPD4_ENST00000296783.3_Silent_p.L390L|PAPD4_ENST00000423041.2_Silent_p.L386L	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	390	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.L390L(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTGGGGACCTCTTACTGGGCT	0.363000													64	197					0	0	0.870114	0	0
MPRIP	23164	broad.mit.edu	37	17	17080713	17080713	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:17080713G>A	ENST00000395811.5	+	21	3035	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	MPRIP_ENST00000341712.4_Silent_p.T982T|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.T982T|MPRIP_ENST00000444976.1_Silent_p.T944T	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	982						cytoplasm|cytoskeleton	actin binding	p.T982T(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACAGTGCCACGGTGTCCGGAT	0.587000													6	72					0	0	0.217242	0	0
MICALL1	85377	broad.mit.edu	37	22	38329085	38329085	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:38329085C>G	ENST00000215957.6	+	13	2400	c.2274C>G	c.(2272-2274)gtC>gtG	p.V758V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	758						cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.V758V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGCTGATGTCGAGTATGAGC	0.632000													12	91					0	0	0.411799	0	0
CCKBR	887	broad.mit.edu	37	11	6291461	6291461	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:6291461G>A	ENST00000525462.1	+	3	550	c.547G>A	c.(547-549)Gga>Aga	p.G183R	CCKBR_ENST00000334619.2_Missense_Mutation_p.G183R|CCKBR_ENST00000532715.1_Missense_Mutation_p.G99R|CCKBR_ENST00000525014.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	147					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.G183R(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCTGTCCGGACTACTCAT	0.667000													14	70					0	0	0.500413	0	0
HRH4	59340	broad.mit.edu	37	18	22048844	22048844	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:22048844C>G	ENST00000256906.4	+	2	386	c.286C>G	c.(286-288)Ctg>Gtg	p.L96V	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	96						integral to membrane|plasma membrane	histamine receptor activity	p.L96V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TACTGACTATCTGTTATGTAC	0.408000													20	71					0	0	0.575678	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635518	122635518	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:122635518G>A	ENST00000249284.2	-	1	236	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	57					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.F57F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTGTAGACAGAAGCGAGAGA	0.428000													25	73					0	0	0.654019	0	0
OR13A1	79290	broad.mit.edu	37	10	45799078	45799078	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:45799078C>T	ENST00000553795.1	-	4	1101	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	OR13A1_ENST00000536058.1_Missense_Mutation_p.V265M|OR13A1_ENST00000374401.2_Missense_Mutation_p.V265M	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V265M(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ATGCACACCACGGTGAGGTGG	0.572000													39	96					0	0	0.819951	0	0
USH1C	10083	broad.mit.edu	37	11	17553040	17553040	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:17553040C>T	ENST00000005226.7	-	3	153	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	USH1C_ENST00000527020.1_Missense_Mutation_p.E52K|USH1C_ENST00000527720.1_Missense_Mutation_p.E21K|USH1C_ENST00000318024.4_Missense_Mutation_p.E52K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	52					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.E52K(1)		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						CGGCTGGGTTCATTGATGACC	0.617000													9	46					0	0	0.435327	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677535	107677535	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:107677535C>T	ENST00000525071.1	-	7	1070	c.482G>A	c.(481-483)aGa>aAa	p.R161K	SLC35F2_ENST00000265836.7_Missense_Mutation_p.R13K|SLC35F2_ENST00000429869.1_Missense_Mutation_p.R161K|SLC35F2_ENST00000375682.4_Missense_Mutation_p.R114K|SLC35F2_ENST00000525815.1_Missense_Mutation_p.R161K			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	161					transport	integral to membrane		p.R161K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GTGGATCACTCTGTATCTTGC	0.458000													16	90					0	0	0.520397	0	0
GSR	2936	broad.mit.edu	37	8	30537169	30537169	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:30537169C>T	ENST00000221130.5	-	13	1527	c.1437G>A	c.(1435-1437)atG>atA	p.M479I	GSR_ENST00000546342.1_Missense_Mutation_p.M450I|GSR_ENST00000537535.1_Missense_Mutation_p.M397I|GSR_ENST00000414019.1_Missense_Mutation_p.M436I|GSR_ENST00000541648.1_Missense_Mutation_p.M426I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	479					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	p.M479I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CAAGTCCCTGCATATGGATCC	0.443000													8	89					0	0	0.278610	0	0
ATG2A	23130	broad.mit.edu	37	11	64662776	64662776	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:64662776C>T	ENST00000421419.2	-	40	5686	c.5572G>A	c.(5572-5574)Gac>Aac	p.D1858N	ATG2A_ENST00000377264.3_Missense_Mutation_p.D1856N			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1856							protein binding	p.D1856N(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGCACTGTGTCGTAGGCCTTG	0.706000													4	98					0	0	0.217242	0	0
MYH2	4620	broad.mit.edu	37	17	10448678	10448678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:10448678G>A	ENST00000245503.5	-	5	874	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	MYH2_ENST00000532183.2_Nonsense_Mutation_p.Q164*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q164*|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	164	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q164*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCATGAACTGATAGGCGTTG	0.532000													43	283					0	0	0.870114	0	0
GLO1	2739	broad.mit.edu	37	6	38649846	38649846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:38649846G>T	ENST00000373365.4	-	5	494	c.408C>A	c.(406-408)taC>taA	p.Y136*	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	136					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	p.Y136*(1)		lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TACAAGCACTGTATACATCAG	0.403000													19	122					1.50039e-11	1.63399e-11	0.608945	1	0
PRR14L	253143	broad.mit.edu	37	22	32099658	32099658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:32099658C>A	ENST00000327423.6	-	6	6067	c.5878G>T	c.(5878-5880)Gaa>Taa	p.E1960*	PRR14L_ENST00000434485.1_Nonsense_Mutation_p.E1960*|PRR14L_ENST00000397493.2_Nonsense_Mutation_p.E1960*	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1960								p.E1960*(2)|p.E113*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ACAGCTGATTCTGCTACCAAG	0.527000											OREG0003534	type=REGULATORY REGION|Gene=AK123082|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	86					4.4004e-07	4.66443e-07	0.654019	1	0
SMYD1	150572	broad.mit.edu	37	2	88409880	88409880	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:88409880G>A	ENST00000419482.2	+	10	1407	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.R428Q	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R441Q(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGGCCATGCGGGTGCAGACG	0.532000													10	24					0	0	0.361761	0	0
MGEA5	10724	broad.mit.edu	37	10	103547231	103547231	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:103547231A>G	ENST00000361464.3	-	15	2899	c.2504T>C	c.(2503-2505)tTc>tCc	p.F835S	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.F768S|MGEA5_ENST00000439817.1_Missense_Mutation_p.F782S	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	835	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	p.F835S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATTAGCAAGGAAAGTTTCTGG	0.383000													8	101					0	0	0.278610	0	0
CKMT2	1160	broad.mit.edu	37	5	80561982	80561982	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:80561982G>A	ENST00000424301.2	+	11	1403	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D389N|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D389N|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	389	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.D389N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GATAGTCATCGATGGAGTCAA	0.418000													26	253					0	0	0.654019	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736823	140736823	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140736823G>T	ENST00000571252.1	+	1	2056	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCCAGACGACTCGGGCCT	0.617000													16	44					1.45105e-14	1.6022e-14	0.539581	1	0
C18orf8	29919	broad.mit.edu	37	18	21110070	21110070	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:21110070C>T	ENST00000269221.3	+	17	1683	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Missense_Mutation_p.H477Y	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	525	Mic1.							p.H525Y(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTGCAGTACCACGTCCTCAG	0.393000													46	421					0	0	0.870114	0	0
SYCE2	256126	broad.mit.edu	37	19	13029049	13029049	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:13029049C>T	ENST00000293695.7	-	2	136	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	40					cell division	central element		p.G40R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GCTGGCCCTCCACCAGCTTCC	0.597000													11	69					0	0	0.411799	0	0
ITGA8	8516	broad.mit.edu	37	10	15614236	15614236	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:15614236G>A	ENST00000378076.3	-	25	2964	c.2611C>T	c.(2611-2613)Cct>Tct	p.P871S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	871					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P871S(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTGATATTAGGATTTGGTTGG	0.413000													20	85					0	0	0.639603	0	0
MIR323A	442897	broad.mit.edu	37	14	101492118	101492118	+	RNA	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:101492118G>A	ENST00000362199.1	+	0	50					NR_029890.1																						TATTTATGGCGCACATTACAC	0.557000													13	192					0	0	0.479597	0	0
SEMG1	6406	broad.mit.edu	37	20	43836572	43836572	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:43836572A>G	ENST00000372781.3	+	2	691	c.634A>G	c.(634-636)Aat>Gat	p.N212D	SEMG1_ENST00000244069.6_Missense_Mutation_p.N212D	NM_003007.3	NP_002998.1			semenogelin I									p.N212D(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGAGACTAAAAATTCTCATCA	0.408000													12	137					0	0	0.411799	0	0
ACE	1636	broad.mit.edu	37	17	61568636	61568636	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:61568636G>A	ENST00000577647.1	+	8	1129	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	ACE_ENST00000290866.4_Missense_Mutation_p.V936M|ACE_ENST00000490216.2_Missense_Mutation_p.V362M|ACE_ENST00000421982.2_Missense_Mutation_p.V182M|ACE_ENST00000428043.1_Missense_Mutation_p.V936M|ACE_ENST00000290863.6_Missense_Mutation_p.V362M|ACE_ENST00000413513.3_Missense_Mutation_p.V362M			P12821	ACE_HUMAN	angiotensin I converting enzyme	936	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.V362M(1)|p.V936M(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTGCTGCCCGTGCCTCCTGA	0.617000													13	101					0	0	0.411799	0	0
DDX53	168400	broad.mit.edu	37	X	23019072	23019072	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:23019072C>A	ENST00000327968.5	+	1	986	c.898C>A	c.(898-900)Cta>Ata	p.L300I	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	300	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.L300I(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCCTGGGATGCTAGTCCTTAC	0.418000													4	64					3.59834e-05	3.76405e-05	0.217242	1	0
ATAD3B	83858	broad.mit.edu	37	1	1423280	1423280	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:1423280C>T	ENST00000308647.7	+	12	1368	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	418							ATP binding|nucleoside-triphosphatase activity	p.R418W(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCCTTCCTTCGGAAGCGAGC	0.627000													13	68					0	0	0.411799	0	0
ROBO4	54538	broad.mit.edu	37	11	124755027	124755027	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:124755027G>A	ENST00000306534.3	-	17	3396	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	ROBO4_ENST00000533054.1_Missense_Mutation_p.R826W|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	971					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R971W(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTTCCCAGCCGCTGGGTGTGG	0.622000													17	81					0	0	0.624587	0	0
SORBS2	8470	broad.mit.edu	37	4	186544867	186544867	+	Silent	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr4:186544867C>A	ENST00000431808.1	-	14	2267	c.1704G>T	c.(1702-1704)cgG>cgT	p.R568R	SORBS2_ENST00000355634.5_Silent_p.R668R|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Silent_p.R472R|SORBS2_ENST00000284776.7_Silent_p.R568R			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	568						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R568R(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGCAGCCTCGCCGGCCCCGAG	0.592000													6	56					0.00307968	0.00315915	0.278610	1	0
TRIM23	373	broad.mit.edu	37	5	64906836	64906836	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:64906836C>A	ENST00000231524.9	-	5	1051	c.680G>T	c.(679-681)cGa>cTa	p.R227L	TRIM23_ENST00000274327.7_Missense_Mutation_p.R227L|TRIM23_ENST00000381018.3_Missense_Mutation_p.R227L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	227					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R227L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTGATGCTCGGATCTGATT	0.333000													3	51					0.00909568	0.0092706	0.150653	1	0
FUCA2	2519	broad.mit.edu	37	6	143825240	143825240	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:143825240G>A	ENST00000002165.6	-	3	617	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_Intron	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	p.H188Y(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AAGAGCGGATGAAACCATTCA	0.443000													22	87					0	0	0.608945	0	0
MLF1	4291	broad.mit.edu	37	3	158314703	158314703	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:158314703G>C	ENST00000359117.5	+	3	409	c.173G>C	c.(172-174)aGa>aCa	p.R58T	MLF1_ENST00000471745.1_Missense_Mutation_p.R73T|MLF1_ENST00000392822.3_Missense_Mutation_p.R114T|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000469452.1_Missense_Mutation_p.R58T|MLF1_ENST00000355893.5_Missense_Mutation_p.R83T|MLF1_ENST00000482628.1_Missense_Mutation_p.R58T|MLF1_ENST00000484955.1_Missense_Mutation_p.R58T|MLF1_ENST00000478894.2_Missense_Mutation_p.R73T	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	83	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	p.R83T(1)|p.R114T(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TCAAATATGAGAAACTATATG	0.318000			T	NPM1	AML								13	35					0	0	0.479597	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945393	16945393	+	RNA	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:16945393G>A	ENST00000412962.1	-	0	2126																											TGGGATGCTGGAAACCGCGGG	0.607000													5	81					0	0	0.184627	0	0
C22orf29	79680	broad.mit.edu	37	22	19839452	19839452	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:19839452C>T	ENST00000405640.1	-	2	1001	c.333G>A	c.(331-333)ccG>ccA	p.P111P	C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Silent_p.P111P|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Silent_p.P111P|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	111								p.P111P(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CCAGTAGCCACGGGGAGCCAT	0.607000													18	133					0	0	0.592651	0	0
MED12	9968	broad.mit.edu	37	X	70339981	70339981	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:70339981G>C	ENST00000333646.6	+	4	713	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	MED12_ENST00000374102.1_Missense_Mutation_p.E172Q|MED12_ENST00000374080.3_Missense_Mutation_p.E172Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	172					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.E172Q(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCAATCTCTGAGACCAAGGT	0.488000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						27	53					0	0	0.717897	0	0
CDH8	1006	broad.mit.edu	37	16	61891104	61891104	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:61891104C>A	ENST00000577390.1	-	4	1540	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	CDH8_ENST00000577730.1_Missense_Mutation_p.D196Y|CDH8_ENST00000584337.1_Missense_Mutation_p.D196Y|CDH8_ENST00000299345.6_Missense_Mutation_p.D196Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	196	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D196Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAACTGGGTCATCAGCGTCG	0.388000													14	55					7.93312e-07	8.35342e-07	0.457914	1	0
DNM1	1759	broad.mit.edu	37	9	130986561	130986561	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr9:130986561G>C	ENST00000341179.7	+	10	1320	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	DNM1_ENST00000372923.3_Missense_Mutation_p.E410Q|DNM1_ENST00000486160.1_Intron|DNM1_ENST00000393594.3_Intron|DNM1_ENST00000475805.1_Intron	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	410					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.E410Q(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CATGGCCTTTGAGACCATTGT	0.577000													9	115					0	0	0.411799	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151116998	151116998	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:151116998G>A	ENST00000367328.1	+	6	901	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.E197K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	197	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.E197K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGAGTGAAGAGTTCCACAT	0.358000													15	138					0	0	0.479597	0	0
CYP27B1	1594	broad.mit.edu	37	12	58157882	58157882	+	Splice_Site	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:58157882T>G	ENST00000228606.4	-	7	1423	c.1214A>C	c.(1213-1215)aAt>aCt	p.N405T		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	405					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.N405T(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TTTACTCACATTTTTGGGGAT	0.458000													17	44					0	0	0.539581	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279250	51279250	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:51279250C>G	ENST00000551456.1	+	4	919	c.874C>G	c.(874-876)Ctg>Gtg	p.L292V	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	0	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TGATAACTTTCTGGTGGTCTT	0.333000													29	79					0	0	0.706142	0	0
INTS9	55756	broad.mit.edu	37	8	28651378	28651378	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:28651378A>G	ENST00000416984.2	-	9	1279	c.920T>C	c.(919-921)tTc>tCc	p.F307S	INTS9_ENST00000397363.4_Missense_Mutation_p.F222S|INTS9_ENST00000521777.1_Missense_Mutation_p.F304S|INTS9_ENST00000521022.1_Missense_Mutation_p.F328S	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	328					snRNA processing	integrator complex	protein binding	p.F328S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGGGGAGATGAAGTAGAGGGG	0.468000													7	110					0	0	0.248553	0	0
LARGE	9215	broad.mit.edu	37	22	34157439	34157439	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:34157439G>A	ENST00000354992.2	-	3	596	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	LARGE_ENST00000397394.2_Missense_Mutation_p.R9W|LARGE_ENST00000337431.2_Missense_Mutation_p.R9W|LARGE_ENST00000402320.1_Missense_Mutation_p.R9W|LARGE_ENST00000437602.2_Missense_Mutation_p.R9W	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	9					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.R9W(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AAGAATTTCCGTCTCCCCCTG	0.532000													7	163					0	0	0.248553	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667753	49667753	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:49667753G>A	ENST00000249601.4	-	5	929	c.633C>T	c.(631-633)gaC>gaT	p.D211D	ARHGAP22_ENST00000374172.1_Silent_p.D102D|ARHGAP22_ENST00000374170.1_Silent_p.D121D|ARHGAP22_ENST00000417912.2_Silent_p.D227D|ARHGAP22_ENST00000435790.2_Silent_p.D217D|ARHGAP22_ENST00000417247.2_Silent_p.D121D	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	211	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.D211D(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTCCCCACAGTCGAAGGAAT	0.617000													17	171					0	0	0.520397	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710506	140710506	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140710506C>T	ENST00000517417.1	+	1	255	c.255C>T	c.(253-255)atC>atT	p.I85I	PCDHGA1_ENST00000378105.3_Silent_p.I85I	NM_018912.2	NP_061735.1												p.I85I(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGATCACCGCGCGCA	0.547000													19	205					0	0	0.654019	0	0
ACHE	43	broad.mit.edu	37	7	100489998	100489998	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:100489998C>T	ENST00000302913.4	-	3	1648	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T	ACHE_ENST00000419336.2_Missense_Mutation_p.A416T|ACHE_ENST00000411582.1_Missense_Mutation_p.A504T|ACHE_ENST00000428317.1_Missense_Mutation_p.A504T|ACHE_ENST00000241069.5_Missense_Mutation_p.A504T|ACHE_ENST00000412389.1_Missense_Mutation_p.A504T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	504					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	p.A504T(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AGTCGCTGGGCGAAGATTTTC	0.627000													13	80					0	0	0.479597	0	0
NUDT17	200035	broad.mit.edu	37	1	145588986	145588986	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:145588986C>T	ENST00000334513.5	-	2	273	c.262G>A	c.(262-264)Gat>Aat	p.D88N		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	88							hydrolase activity|metal ion binding	p.D88N(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACACCTCGATCTGTGGGCAGC	0.637000											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	15					0	0	0.115264	0	0
DDX53	168400	broad.mit.edu	37	X	23019219	23019219	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:23019219A>T	ENST00000327968.5	+	1	1133	c.1045A>T	c.(1045-1047)Att>Ttt	p.I349F	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	349	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.I349F(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGTAGATATCATTATTGCAAC	0.353000													4	84					0	0	0.217242	0	0
MSLNL	401827	broad.mit.edu	37	16	823284	823284	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:823284C>T	ENST00000293892.3	-	10	1983	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	MSLNL_ENST00000442466.1_Missense_Mutation_p.A311T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	311					cell adhesion	integral to membrane		p.A662T(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGCAGCGTGGCGGCCGTGATG	0.652000													17	80					0	0	0.500413	0	0
KNTC1	9735	broad.mit.edu	37	12	123057784	123057784	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:123057784G>C	ENST00000333479.7	+	26	2412	c.2235G>C	c.(2233-2235)atG>atC	p.M745I	KNTC1_ENST00000450485.2_Missense_Mutation_p.M708I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	745					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.M745I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAGTTTACATGAGAGAACATG	0.398000													33	157					0	0	0.769981	0	0
MAP4K2	5871	broad.mit.edu	37	11	64557669	64557669	+	Missense_Mutation	SNP	C	C	G	rs148398112		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:64557669C>G	ENST00000294066.2	-	29	2330	c.2239G>C	c.(2239-2241)Gag>Cag	p.E747Q	MAP4K2_ENST00000377350.3_Missense_Mutation_p.E739Q	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	747	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E747Q(2)		cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCCACAGTCTCGATGGGGAAA	0.617000													12	79					0	0	0.411799	0	0
MYO19	80179	broad.mit.edu	37	17	34857010	34857010	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:34857010G>A	ENST00000431794.3	-	22	2668	c.2146C>T	c.(2146-2148)Ccg>Tcg	p.P716S	MYO19_ENST00000268852.9_Missense_Mutation_p.P516S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	716						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.P716S(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTAGGACCGGCAGAGTGTGG	0.582000													4	147					0	0	0.150653	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	66					0	0	0.115264	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480521	140480521	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140480521C>T	ENST00000231130.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		96	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.C96C(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCTATGCGGCCCCACAG	0.448000													4	190					0	0	0.217242	0	0
DST	667	broad.mit.edu	37	6	56391245	56391245	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:56391245C>G	ENST00000370754.5	-	69	17949	c.17950G>C	c.(17950-17952)Gag>Cag	p.E5984Q	DST_ENST00000244364.6_Missense_Mutation_p.E3392Q|DST_ENST00000361203.3_Missense_Mutation_p.E5695Q|DST_ENST00000370769.4_Missense_Mutation_p.E5806Q|DST_ENST00000446842.2_Missense_Mutation_p.E5480Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E3718Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E3609Q			Q03001	DYST_HUMAN	dystonin	5804					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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E5806Q(1)|p.E3392Q(1)		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)			TCATTGTCCTCAGCTACCATT	0.498000													4	186					0	0	0.184627	0	0
ROS1	6098	broad.mit.edu	37	6	117710590	117710590	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:117710590G>A	ENST00000368508.3	-	12	1880	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P570L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P561L(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGCTCCTGCGGGCGGCCTGG	0.557000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								18	145					0	0	0.520397	0	0
MAP1B	4131	broad.mit.edu	37	5	71493610	71493610	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:71493610G>C	ENST00000296755.7	+	5	4726	c.4428G>C	c.(4426-4428)aaG>aaC	p.K1476N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1476						microtubule|microtubule associated complex	structural molecule activity	p.K1476N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCCAAGAAAAGAAAACTGATG	0.408000													24	79					0	0	0.654019	0	0
DST	667	broad.mit.edu	37	6	56391236	56391236	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:56391236C>G	ENST00000370754.5	-	69	17958	c.17959G>C	c.(17959-17961)Gag>Cag	p.E5987Q	DST_ENST00000244364.6_Missense_Mutation_p.E3395Q|DST_ENST00000361203.3_Missense_Mutation_p.E5698Q|DST_ENST00000370769.4_Missense_Mutation_p.E5809Q|DST_ENST00000446842.2_Missense_Mutation_p.E5483Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E3721Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E3612Q			Q03001	DYST_HUMAN	dystonin	5807					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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E3395Q(1)|p.E5809Q(1)		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)			CGGTAGCGCTCATTGTCCTCA	0.493000													4	164					0	0	0.150653	0	0
SPG11	80208	broad.mit.edu	37	15	44876169	44876169	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:44876169A>C	ENST00000261866.7	-	30	5725	c.5709T>G	c.(5707-5709)ttT>ttG	p.F1903L	SPG11_ENST00000535302.2_Missense_Mutation_p.F1903L|SPG11_ENST00000427534.2_Missense_Mutation_p.F1903L|SPG11_ENST00000558319.1_Missense_Mutation_p.F1903L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1903					cell death	cytosol|integral to membrane|nucleus	protein binding	p.F1903L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGGATTATAAAAATGAAAAT	0.473000													16	65					0	0	0.520397	0	0
SPC25	57405	broad.mit.edu	37	2	169732631	169732631	+	Silent	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:169732631A>G	ENST00000282074.2	-	5	543	c.402T>C	c.(400-402)tcT>tcC	p.S134S		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	134	Interaction with the N-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.S134S(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ACAAGTCTGCAGATTTCTGCA	0.284000													3	40					0	0	0.115264	0	0
DDX39B	7919	broad.mit.edu	37	6	31498940	31498940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:31498940G>A	ENST00000417556.2	-	10	1687	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000396172.1_Nonsense_Mutation_p.R338*|DDX39B_ENST00000376177.2_Nonsense_Mutation_p.R338*|DDX39B_ENST00000458640.1_Nonsense_Mutation_p.R338*|DDX39B_ENST00000415382.2_Nonsense_Mutation_p.R260*			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	338	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	p.R338*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGAATTCGTCGTTGAAAATCT	0.418000													14	73					0	0	0.539581	0	0
SPG11	80208	broad.mit.edu	37	15	44876180	44876180	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:44876180A>C	ENST00000261866.7	-	30	5714	c.5698T>G	c.(5698-5700)Tat>Gat	p.Y1900D	SPG11_ENST00000535302.2_Missense_Mutation_p.Y1900D|SPG11_ENST00000427534.2_Missense_Mutation_p.Y1900D|SPG11_ENST00000558319.1_Missense_Mutation_p.Y1900D	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1900					cell death	cytosol|integral to membrane|nucleus	protein binding	p.Y1900D(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAATGAAAATACCGGCATACT	0.473000													17	73					0	0	0.539581	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987674	50987674	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:50987674G>A	ENST00000395676.2	+	1	1213	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	360								p.G261E(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTCTGGCGGGGGGCATCCGT	0.667000													27	123					0	0	0.740014	0	0
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458000													30	72					0	0	0.729181	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482885	152482885	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:152482885G>A	ENST00000356661.5	-	3	344	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	42						cytoplasm|plasma membrane		p.T42T(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCAGGGTGCCCAGGA	0.627000													39	109					0	0	0.804634	0	0
SF3B3	23450	broad.mit.edu	37	16	70575582	70575582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:70575582C>T	ENST00000302516.5	+	9	1289	c.1078C>T	c.(1078-1080)Caa>Taa	p.Q360*		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	360					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.Q360*(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTACTTATATCAAATTGCACA	0.413000													36	214					0	0	0.840704	0	0
APOA4	337	broad.mit.edu	37	11	116692360	116692360	+	Nonsense_Mutation	SNP	G	G	T	rs145317065		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:116692360G>T	ENST00000357780.3	-	3	528	c.414C>A	c.(412-414)taC>taA	p.Y138*		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.Y138*(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTGGTCCGCGTagggctcca	0.682000													11	42					0.000978159	0.00100992	0.387290	1	0
INPPL1	3636	broad.mit.edu	37	11	71949087	71949087	+	Splice_Site	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:71949087C>A	ENST00000541756.1	+	27	3758	c.2828C>A	c.(2827-2829)gCt>gAt	p.A943D	INPPL1_ENST00000298229.2_Splice_Site_p.A1185D|INPPL1_ENST00000538751.1_Splice_Site_p.A943D			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1185	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.A1185D(2)		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						TTTCCTTAGGCTCCGTGCCTG	0.657000											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0.000602214	0.000625831	0.184627	1	0
HYDIN	54768	broad.mit.edu	37	16	70884498	70884498	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:70884498G>A	ENST00000393567.2	-	74	12654	c.12504C>T	c.(12502-12504)atC>atT	p.I4168I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4168								p.I4167I(1)|p.I4119I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCACATTGCAGATCAAATTAA	0.448000													10	65					0	0	0.361761	0	0
PRR14L	253143	broad.mit.edu	37	22	32097734	32097734	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:32097734C>T	ENST00000327423.6	-	7	6204	c.6015G>A	c.(6013-6015)aaG>aaA	p.K2005K	PRR14L_ENST00000434485.1_Intron|PRR14L_ENST00000397493.2_Silent_p.K2005K	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	2005								p.K2005K(2)|p.K158K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TCTTTGGCCTCTTCTCTGGCT	0.438000													17	71					0	0	0.520397	0	0
NADK	65220	broad.mit.edu	37	1	1684482	1684482	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:1684482G>A	ENST00000344463.4	-	14	1858	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	NADK_ENST00000341426.5_Missense_Mutation_p.S401L|NADK_ENST00000378625.1_Missense_Mutation_p.S546L|NADK_ENST00000341991.3_Missense_Mutation_p.S401L|NADK_ENST00000342348.5_Missense_Mutation_p.S369L			O95544	NADK_HUMAN	NAD kinase	401					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	p.S401L(1)|p.S369L(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CGGGTAGCATGAGGTAGTGAT	0.642000													3	19					0	0	0.217242	0	0
GPHB5	122876	broad.mit.edu	37	14	63784372	63784372	+	RNA	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:63784372C>T	ENST00000539258.1	-	0	248							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity	p.E64K(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCCCAGGTCTCACAGCGACCC	0.532000													6	50					0	0	0.248553	0	0
INO80	54617	broad.mit.edu	37	15	41372084	41372084	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:41372084T>A	ENST00000361937.3	-	9	1370	c.946A>T	c.(946-948)Aag>Tag	p.K316*	INO80_ENST00000401393.3_Nonsense_Mutation_p.K316*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	316	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	p.K316*(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGCACCTCCTTCATGCACTGG	0.527000													30	200					0	0	0.740014	0	0
MTMR9	66036	broad.mit.edu	37	8	11172556	11172556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:11172556G>T	ENST00000221086.3	+	7	1569	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.E281*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	366	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding	p.E366*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GGCCCTGATTGAAAGAGAGTG	0.488000													25	125					6.38683e-12	7.00349e-12	0.729181	1	0
RBP2	5948	broad.mit.edu	37	3	139181129	139181129	+	Missense_Mutation	SNP	A	A	G	rs142756165		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:139181129A>G	ENST00000232217.2	-	2	133	c.77T>C	c.(76-78)aTt>aCt	p.I26T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	26					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	p.I26T(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GGCAAAATCAATATCTGTTGG	0.428000													19	114					0	0	0.575678	0	0
RNF217	154214	broad.mit.edu	37	6	125366487	125366487	+	Missense_Mutation	SNP	G	G	A	rs150679432		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:125366487G>A	ENST00000521654.2	+	2	1013	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	RNF217_ENST00000560949.1_Missense_Mutation_p.R103H|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Missense_Mutation_p.R46H|RNF217_ENST00000454842.2_3'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	46					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.R46H(1)|p.R338H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		GAACTTGGCCGTATTGATTCC	0.413000													4	96					0	0	0.217242	0	0
GINS1	9837	broad.mit.edu	37	20	25405846	25405846	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:25405846G>A	ENST00000262460.4	+	5	424		c.e5-1		GINS1_ENST00000429262.2_Splice_Site	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)						DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TATGTTTGCAGATGGAGTGGT	0.363000													24	89					0	0	0.654019	0	0
ACTN1	87	broad.mit.edu	37	14	69371375	69371375	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:69371375C>T	ENST00000193403.6	-	7	1056	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ACTN1_ENST00000376839.3_Missense_Mutation_p.E160K|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000438964.2_Missense_Mutation_p.E225K|ACTN1_ENST00000538545.2_Missense_Mutation_p.E225K|ACTN1_ENST00000394419.4_Missense_Mutation_p.E225K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	225	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.E225K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTTCACCTTCGGCATCCAGC	0.567000													6	114					0	0	0.307466	0	0
COL5A1	1289	broad.mit.edu	37	9	137664657	137664657	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr9:137664657C>T	ENST00000371817.3	+	26	2722	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	770	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P770S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAAGAAGGCCCTCCAGGAGA	0.607000													11	131					0	0	0.457914	0	0
AGBL1	123624	broad.mit.edu	37	15	87217600	87217600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:87217600C>T	ENST00000441037.2	+	22	3111	c.3016C>T	c.(3016-3018)Cag>Tag	p.Q1006*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.Q737*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.Q1006*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1006					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.Q1006*(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGCAGCCATCAGCTCCTGGC	0.562000													7	24					0	0	0.248553	0	0
ARID1A	8289	broad.mit.edu	37	1	27059204	27059204	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:27059204C>T	ENST00000324856.7	+	4	2212	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	ARID1A_ENST00000457599.2_Missense_Mutation_p.S614L|ARID1A_ENST00000374152.2_Missense_Mutation_p.S231L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	614					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.S614L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGCATCCTCAGCCCCCTCA	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	169					0	0	0.278610	0	0
PAF1	54623	broad.mit.edu	37	19	39876761	39876761	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:39876761C>G	ENST00000221265.3	-	14	1796	c.1466G>C	c.(1465-1467)gGt>gCt	p.G489A	PAF1_ENST00000595564.1_Missense_Mutation_p.V418L|PAF1_ENST00000221266.7_Missense_Mutation_p.V395L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	489					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.G489A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCGCTGGCCACCCCCATTGCT	0.617000													7	85					0	0	0.411799	0	0
TTLL9	164395	broad.mit.edu	37	20	30513763	30513763	+	Splice_Site	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:30513763T>C	ENST00000375921.2	+	9	977	c.574T>C	c.(574-576)Tat>Cat	p.Y192H	TTLL9_ENST00000375938.4_Intron|TTLL9_ENST00000535842.1_Intron|TTLL9_ENST00000375934.4_Intron|TTLL9_ENST00000310998.4_Splice_Site_p.Y215H|TTLL9_ENST00000375922.4_Splice_Site_p.Y192H			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	250	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGATGACCAGTGTATCCTGGG	0.572000													7	16					0	0	0.248553	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:8216353C>T	ENST00000361926.3	+	3	825	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	239					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R239C(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGGGTCCCCCGTCGGGCCTC	0.706000													10	170					0	0	0.335167	0	0
OR2L2	26246	broad.mit.edu	37	1	248202245	248202245	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:248202245C>T	ENST00000366479.2	+	1	772	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R226C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTGTCTACCGCATGCACTC	0.488000													33	191					0	0	0.760397	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151116991	151116991	+	Splice_Site	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:151116991G>C	ENST00000367328.1	+	6	894		c.e6-1		PLEKHG1_ENST00000358517.2_Splice_Site	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTTCCTTGCAGAGTGAAGAGT	0.343000													14	133					0	0	0.457914	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078205	90078205	+	RNA	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:90078205A>C	ENST00000390270.2	+	0	339																											GGCATCCCAGACAGGTTCAGT	0.547000													5	107					0	0	0.184627	0	0
TRIO	7204	broad.mit.edu	37	5	14359563	14359563	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:14359563G>C	ENST00000344204.4	+	13	2338	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E772Q|TRIO_ENST00000509967.2_Missense_Mutation_p.E723Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	772					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|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.E772Q(1)		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)					GTCGCAGATGGAGGAGCTCTT	0.617000													8	104					0	0	0.335167	0	0
GALNT8	26290	broad.mit.edu	37	12	4835834	4835834	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:4835834G>C	ENST00000252318.2	+	2	685	c.348G>C	c.(346-348)atG>atC	p.M116I	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	116						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.M116I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAACCCAAATGAAACTCTTCC	0.498000													3	36					0	0	0.115264	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001218	13001218	+	Silent	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:13001218G>C	ENST00000376189.1	-	3	564	c.465C>G	c.(463-465)ctC>ctG	p.L155L	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Silent_p.L155L	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	155								p.L155L(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGTTCTTGAGCCAAAGTT	0.483000													36	456					0	0	0.870114	0	0
KNTC1	9735	broad.mit.edu	37	12	123057806	123057806	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:123057806G>A	ENST00000333479.7	+	26	2434	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	KNTC1_ENST00000450485.2_Missense_Mutation_p.E716K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	753					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.E753K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTTGCAAGAGGAGGAACTTCT	0.378000													28	153					0	0	0.729181	0	0
FER	2241	broad.mit.edu	37	5	108436173	108436173	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:108436173C>T	ENST00000281092.4	+	17	2385	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	FER_ENST00000438717.2_Silent_p.D492D	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	667	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.D667D(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTTCATTAGACGCTGCTGCTG	0.348000													7	65					0	0	0.278610	0	0
CCDC40	55036	broad.mit.edu	37	17	78022498	78022498	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:78022498G>A	ENST00000397545.4	+	5	820	c.793G>A	c.(793-795)Gag>Aag	p.E265K	CCDC40_ENST00000269318.5_Missense_Mutation_p.E265K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E265K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E265K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	265					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.E265K(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGGAGTCCGAGGGGAGTGA	0.612000													8	52					0	0	0.278610	0	0
LSS	4047	broad.mit.edu	37	21	47627356	47627356	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr21:47627356C>T	ENST00000397728.3	-	15	1531	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	LSS_ENST00000356396.4_Missense_Mutation_p.D485N|LSS_ENST00000457828.2_Missense_Mutation_p.D405N|LSS_ENST00000522411.1_Missense_Mutation_p.D474N	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	485					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	p.D485N(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCACAGCATCGCAGAGCCGT	0.612000													10	17					0	0	0.335167	0	0
KMT2A	4297	broad.mit.edu	37	11	118375024	118375024	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:118375024C>T	ENST00000534358.1	+	27	8440	c.8417C>T	c.(8416-8418)tCa>tTa	p.S2806L	KMT2A_ENST00000389506.5_Missense_Mutation_p.S2803L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2765L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.S2806L(1)|p.S2803L(1)									CAGCTCAGCTCATTGGAGTCA	0.443000													5	165					0	0	0.184627	0	0
C16orf89	146556	broad.mit.edu	37	16	5110356	5110356	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:5110356G>A	ENST00000315997.5	-	3	641	c.440C>T	c.(439-441)aCg>aTg	p.T147M	C16orf89_ENST00000422873.1_Missense_Mutation_p.T185M|C16orf89_ENST00000472572.3_Missense_Mutation_p.T147M|C16orf89_ENST00000474471.3_Missense_Mutation_p.T147M|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.T185M	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	147						extracellular region		p.T185M(2)|p.T147M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGGCCCGAACGTGGGGTACAC	0.597000													14	69					0	0	0.457914	0	0
ASUN	55726	broad.mit.edu	37	12	27077408	27077408	+	Silent	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:27077408C>A	ENST00000261191.7	-	7	1220	c.684G>T	c.(682-684)ccG>ccT	p.P228P	ASUN_ENST00000539625.1_Silent_p.P127P	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	228					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.P228P(1)									TGGTTAAAACCGGGGACAACT	0.318000													28	104					2.47511e-08	2.64122e-08	0.729181	1	0
KLK1	3816	broad.mit.edu	37	19	51323464	51323464	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:51323464C>G	ENST00000448701.2	-	4	1460	c.136G>C	c.(136-138)Gaa>Caa	p.E46Q	KLK1_ENST00000301420.2_Missense_Mutation_p.E148Q			P06870	KLK1_HUMAN	kallikrein 1	148	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity	p.E148Q(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCACTTCGGGTTCCTCG	0.607000													14	106					0	0	0.654019	0	0
LOC647264	647264	broad.mit.edu	37	13	64321208	64321208	+	Missense_Mutation	SNP	T	T	A	rs141510771	by1000genomes	TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr13:64321208T>A	ENST00000453638.2	+	1	275	c.275T>A	c.(274-276)tTc>tAc	p.F92Y															p.F92Y(2)		endometrium(2)|lung(1)|urinary_tract(1)	4						ggaactggcttcggctgtggg	0.557000													3	14					0	0	0.115264	0	0
KIF14	9928	broad.mit.edu	37	1	200571154	200571154	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:200571154C>G	ENST00000367350.4	-	11	2460	c.2022G>C	c.(2020-2022)atG>atC	p.M674I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	674					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.M674I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCGTAGCAATCATTGCAGTTT	0.348000													15	83					0	0	0.520397	0	0
THEMIS	387357	broad.mit.edu	37	6	128150707	128150707	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:128150707T>G	ENST00000368250.1	-	4	884	c.386A>C	c.(385-387)aAg>aCg	p.K129T	THEMIS_ENST00000537166.1_Missense_Mutation_p.K173T|THEMIS_ENST00000543064.1_Missense_Mutation_p.K208T|THEMIS_ENST00000368248.2_Missense_Mutation_p.K208T			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	208	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.K208T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGAGTCCCACTTATTTGAAAA	0.363000													28	107					0	0	0.706142	0	0
UMOD	7369	broad.mit.edu	37	16	20352631	20352631	+	Silent	SNP	G	G	A	rs144461487		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:20352631G>A	ENST00000396134.2	-	8	1581	c.1458C>T	c.(1456-1458)acC>acT	p.T486T	UMOD_ENST00000396142.2_Silent_p.T453T|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Silent_p.T453T|UMOD_ENST00000570689.1_Silent_p.T453T|UMOD_ENST00000396138.4_Silent_p.T502T|UMOD_ENST00000424589.1_Silent_p.T486T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	453	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.T453T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGAACATGCCGGTCCCGCCCA	0.587000													17	79					0	0	0.557998	0	0
SUN1	23353	broad.mit.edu	37	7	897568	897568	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:897568G>A	ENST00000456758.2	+	19	2065	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	SUN1_ENST00000425407.2_Missense_Mutation_p.E417K|SUN1_ENST00000413514.2_Missense_Mutation_p.E298K|SUN1_ENST00000452783.2_Missense_Mutation_p.E397K|SUN1_ENST00000389574.3_Missense_Mutation_p.E417K|SUN1_ENST00000405266.1_Missense_Mutation_p.E537K|SUN1_ENST00000401592.1_Missense_Mutation_p.E500K			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	527	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.E500K(1)|p.E417K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCGGCTGTGAGACAGTGGA	0.468000													91	218					0	0	0.870114	0	0
MPRIP	23164	broad.mit.edu	37	17	17080692	17080692	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:17080692G>A	ENST00000395811.5	+	21	3014	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	MPRIP_ENST00000341712.4_Silent_p.E975E|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.E975E|MPRIP_ENST00000444976.1_Silent_p.E937E	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	975						cytoplasm|cytoskeleton	actin binding	p.E975E(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACTGGGGGAGAAGTCCCCTG	0.577000													6	90					0	0	0.217242	0	0
ECHDC2	55268	broad.mit.edu	37	1	53370432	53370432	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:53370432C>G	ENST00000536120.1	-	10	1267	c.450G>C	c.(448-450)ctG>ctC	p.L150L	ECHDC2_ENST00000358358.5_Silent_p.L165L|ECHDC2_ENST00000371522.4_Silent_p.L196L			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	196					fatty acid metabolic process	mitochondrion	lyase activity	p.L165L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CAGTTCCACTCAGTCGTCGGC	0.677000													12	64					0	0	0.435327	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769617	140769617	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140769617G>C	ENST00000519479.1	+	1	2166	c.2166G>C	c.(2164-2166)tgG>tgC	p.W722C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.W722C(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTCCTGGAGCTGCTTCC	0.572000													42	293					0	0	0.870114	0	0
CD58	965	broad.mit.edu	37	1	117078842	117078842	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:117078842G>C	ENST00000457047.2	-	3	426	c.373C>G	c.(373-375)Cca>Gca	p.P125A	CD58_ENST00000369487.3_Missense_Mutation_p.P125A|CD58_ENST00000369489.5_Missense_Mutation_p.P125A	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	125					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	p.P125A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTGGGAGATGGAAGAGACTCT	0.358000													5	36					0	0	0.184627	0	0
CPT1B	1375	broad.mit.edu	37	22	51009598	51009598	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:51009598C>T	ENST00000360719.2	-	15	2001	c.1864G>A	c.(1864-1866)Ggg>Agg	p.G622R	CPT1B_ENST00000440709.1_Missense_Mutation_p.G541R|CPT1B_ENST00000457250.1_Missense_Mutation_p.G588R|CPT1B_ENST00000395650.2_Missense_Mutation_p.G622R|CPT1B_ENST00000312108.7_Missense_Mutation_p.G622R|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.G622R|CPT1B_ENST00000434492.2_Missense_Mutation_p.G417R	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	622					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.G622R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGTGGGACCCCTCCATCATG	0.612000													19	109					0	0	0.575678	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64496768	64496768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:64496768G>A	ENST00000303052.7	-	9	1294	c.871C>T	c.(871-873)Cga>Tga	p.R291*	CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.R291*|CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.R291*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.R273*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	291	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.R291*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTGACATATCGAAGGTAGGTT	0.448000													4	148					0	0	0.217242	0	0
PALM	5064	broad.mit.edu	37	19	746578	746578	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:746578G>A	ENST00000264560.7	+	8	990	c.796G>A	c.(796-798)Gat>Aat	p.D266N	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.D310N	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	310					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		p.D310N(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GAACGTGGAGGATGAGGCCGA	0.657000													9	40					0	0	0.387290	0	0
IRX1	79192	broad.mit.edu	37	5	3600733	3600733	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:3600733C>T	ENST00000302006.3	+	3	1375	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	441						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L441L(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAGAGACCTCGTCCCCAGGC	0.617000													10	141					0	0	0.335167	0	0
ZNF337	26152	broad.mit.edu	37	20	25666702	25666702	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:25666702C>T	ENST00000376436.1	-	2	623	c.84G>A	c.(82-84)ctG>ctA	p.L28L	ZNF337_ENST00000538750.1_Silent_p.L28L|ZNF337_ENST00000252979.5_Silent_p.L28L|ZNF337_ENST00000481610.1_5'UTR					zinc finger protein 337									p.L28L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGGCTCAGCAGCCTCCATT	0.547000													40	268					0	0	0.864702	0	0
CD276	80381	broad.mit.edu	37	15	73994784	73994784	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:73994784G>A	ENST00000318443.5	+	3	570	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	CD276_ENST00000561213.1_Missense_Mutation_p.A90T|CD276_ENST00000318424.5_Missense_Mutation_p.A90T|CD276_ENST00000564751.1_Missense_Mutation_p.A90T|CD276_ENST00000537340.2_5'UTR	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	90	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	p.A90T(1)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CAGCGCCTATGCCAACCGCAC	0.642000													5	60					0	0	0.184627	0	0
ZNF597	146434	broad.mit.edu	37	16	3486866	3486866	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:3486866T>G	ENST00000301744.4	-	4	1068	c.833A>C	c.(832-834)aAt>aCt	p.N278T		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N278T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TGGTTTCTCATTAAAATGTTT	0.443000													36	204					0	0	0.812448	0	0
PDE3A	5139	broad.mit.edu	37	12	20833109	20833109	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:20833109G>A	ENST00000359062.3	+	16	3370	c.3330G>A	c.(3328-3330)tcG>tcA	p.S1110S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1110					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S1110S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCCCTCAGTCGCACTCTTCAG	0.483000													4	176					0	0	0.150653	0	0
MDC1	9656	broad.mit.edu	37	6	30673687	30673687	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:30673687C>T	ENST00000376406.3	-	10	3920	c.3273G>A	c.(3271-3273)gaG>gaA	p.E1091E	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.E827E	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1091	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.E1091E(1)		breast(2)|kidney(1)|ovary(1)	4						ACAAGGGAGCCTCTGGAGCTT	0.527000								Other conserved DNA damage response genes					57	378					0	0	0.870114	0	0
OBSCN	84033	broad.mit.edu	37	1	228547934	228547934	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:228547934C>T	ENST00000284548.11	+	81	19415	c.19341C>T	c.(19339-19341)caC>caT	p.H6447H	OBSCN_ENST00000366709.4_Silent_p.H3566H|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.H6447H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGACACACACAGCCTTGGGG	0.632000													8	67					0	0	0.307466	0	0
ARID1A	8289	broad.mit.edu	37	1	27059260	27059260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:27059260C>T	ENST00000324856.7	+	4	2268	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q633*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q250*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	633					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q633*(2)|p.S634fs*12(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTGAGCCTTCAGTCAAGACC	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								14	170					0	0	0.479597	0	0
CIDEB	27141	broad.mit.edu	37	14	24776597	24776597	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:24776597G>A	ENST00000336557.5	-	5	1468	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Missense_Mutation_p.R56C|CIDEB_ENST00000258807.5_Missense_Mutation_p.R56C			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	56	CIDE-N.				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol		p.R56C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		AGCTCCTGGCGGGTGGCAGCT	0.587000													15	114					0	0	0.500413	0	0
PHF6	84295	broad.mit.edu	37	X	133512098	133512098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:133512098G>T	ENST00000332070.3	+	3	404	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	PHF6_ENST00000370803.3_Nonsense_Mutation_p.E68*|PHF6_ENST00000394292.1_Nonsense_Mutation_p.E68*|PHF6_ENST00000370800.4_Nonsense_Mutation_p.E68*|PHF6_ENST00000370799.1_Nonsense_Mutation_p.E68*|PHF6_ENST00000416404.2_Intron	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	p.E68*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCTATTGAAGATGTCCA	0.299000			"""F, N, Splice, Mis"""		ETP ALL								17	48					7.41877e-09	7.9709e-09	0.608945	1	0
DCLK1	9201	broad.mit.edu	37	13	36401843	36401843	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr13:36401843G>C	ENST00000255448.4	-	10	1547	c.1336C>G	c.(1336-1338)Ccc>Gcc	p.P446A	DCLK1_ENST00000379893.1_Missense_Mutation_p.P139A|DCLK1_ENST00000360631.3_Missense_Mutation_p.P446A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	446	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.P446A(2)|p.P139A(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACGATATTGGGATGCTTCACT	0.388000													15	105					0	0	0.479597	0	0
PDXK	8566	broad.mit.edu	37	21	45173597	45173597	+	Silent	SNP	C	C	T	rs138572525		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr21:45173597C>T	ENST00000291565.4	+	9	939	c.756C>T	c.(754-756)ctC>ctT	p.L252L	PDXK_ENST00000467908.1_Silent_p.L212L|PDXK_ENST00000468090.1_Silent_p.L224L	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	252					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	p.L252L(2)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CCAATAACCTCAAGGTCAGCC	0.622000													14	116					0	0	0.435327	0	0
RLF	6018	broad.mit.edu	37	1	40661404	40661404	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:40661404T>G	ENST00000372771.4	+	4	602	c.575T>G	c.(574-576)aTt>aGt	p.I192S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	192					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.I192S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTCTTAAAATTCTGTCTCAA	0.368000													5	47					0	0	0.248553	0	0
SYNE1	23345	broad.mit.edu	37	6	152651857	152651857	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:152651857T>C	ENST00000367255.5	-	78	14564	c.13963A>G	c.(13963-13965)Att>Gtt	p.I4655V	SYNE1_ENST00000341594.5_Missense_Mutation_p.I4402V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4584V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4655V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4584V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4655					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I4655V(2)|p.I4584V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCAACAATTACATTAAAT	0.428000										HNSCC(10;0.0054)			17	117					0	0	0.520397	0	0
ZNF521	25925	broad.mit.edu	37	18	22805418	22805418	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:22805418T>C	ENST00000361524.3	-	4	2612	c.2464A>G	c.(2464-2466)Att>Gtt	p.I822V	ZNF521_ENST00000538137.2_Missense_Mutation_p.I822V|ZNF521_ENST00000584787.1_Missense_Mutation_p.I602V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	822					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.I822V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTAACAAAATGATCGCATGG	0.468000			T	PAX5	ALL								18	200					0	0	0.539581	0	0
ARSB	411	broad.mit.edu	37	5	78076390	78076390	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:78076390C>T	ENST00000264914.4	-	8	1968	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	478					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	p.D478N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGGTCCCGATCAATATCAAAG	0.498000													4	80					0	0	0.150653	0	0
ASPHD2	57168	broad.mit.edu	37	22	26839131	26839131	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:26839131G>A	ENST00000215906.5	+	4	1507	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	357					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.E331K(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGCAGCGGCCGAACGGCAGGC	0.607000													64	303					0	0	0.870114	0	0
LPAR6	10161	broad.mit.edu	37	13	48985928	48985928	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr13:48985928A>C	ENST00000378434.4	-	7	2256	c.632T>G	c.(631-633)tTa>tGa	p.L211*	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Nonsense_Mutation_p.L211*	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	211						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)|p.L211*(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGGTTTGGTTAAAGTTTTTAG	0.264000													10	61					0	0	0.361761	0	0
KMT2B	9757	broad.mit.edu	37	19	36211795	36211795	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:36211795A>G	ENST00000420124.1	+	3	1546	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E	KMT2B_ENST00000341701.1_Missense_Mutation_p.K516E|KMT2B_ENST00000222270.7_Missense_Mutation_p.K516E|KMT2B_ENST00000607650.1_RNA					lysine (K)-specific methyltransferase 2B									p.K516Q(1)|p.K516E(1)									CGTGGCCCCCAAAAGCACCAC	0.622000													5	16					0	0	0.184627	0	0
PTGDR	5729	broad.mit.edu	37	14	52735281	52735281	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:52735281G>A	ENST00000306051.2	+	1	851	c.749G>A	c.(748-750)gGg>gAg	p.G250E	PTGDR_ENST00000553372.1_Missense_Mutation_p.G250E	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	250						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.G250E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCGCGGACGGGAGGGAAGCG	0.667000													36	148					0	0	0.779181	0	0
RPTOR	57521	broad.mit.edu	37	17	78704398	78704398	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:78704398G>A	ENST00000306801.3	+	5	908	c.546G>A	c.(544-546)ctG>ctA	p.L182L	RPTOR_ENST00000544334.2_Silent_p.L182L|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Silent_p.L182L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	182					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.L182L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TATATGACCTGCAGACGTGGA	0.532000													13	94					0	0	0.457914	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				6	12	---	---	---	---					
RP11-306I1.2	0	broad.mit.edu	37	1	165589170	165589171	+	RNA	INS	-	-	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:165589170_165589171insC	ENST00000452618.1	+	0	315																											tccttccctctttccctctctc	0.470													2	4	---	---	---	---					
TRIM67	440730	broad.mit.edu	37	1	231349602	231349603	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:231349602_231349603insCCAC	ENST00000444294.3	+	9	3017_3018	c.2159_2160insCCAC	c.(2158-2163)ctgctgfs	p.L721fs	TRIM67_ENST00000366653.5_Frame_Shift_Ins_p.L723fs|TRIM67_ENST00000366652.2_Frame_Shift_Ins_p.L723fs|TRIM67_ENST00000449018.3_Frame_Shift_Ins_p.L661fs	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	723	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGGGCGTGCTGCTGGACCTGA	0.614													9	199	---	---	---	---					
FEZ2	9637	broad.mit.edu	37	2	36805997	36805998	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:36805997_36805998delGC	ENST00000379245.4	-	5	693_694	c.645_646delGC	c.(643-648)aggctcfs	p.RL215fs	FEZ2_ENST00000305852.7_Frame_Shift_Del_p.RL44fs|FEZ2_ENST00000405912.3_Frame_Shift_Del_p.RL215fs	NM_001042548.1	NP_001036013.1	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	215					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GACACTGAGAGCCTTTTCACTC	0.396													14	80	---	---	---	---					
RP1-167F1.2	0	broad.mit.edu	37	6	19692281	19692282	+	RNA	DEL	GT	GT	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:19692281_19692282delGT	ENST00000432171.2	-	0	263																											ggtgtgtgtggtgtgtgtgtgt	0.559													3	5	---	---	---	---					
HLA-A	3105	broad.mit.edu	37	6	29910346	29910346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:29910346delC	ENST00000396634.1	+	3	357	c.16delC	c.(16-18)cccfs	p.P6fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.P6fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.P6fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.P6fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	6					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGTCATGGCGCCCCGAACCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			12	115	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100280314	100280315	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:100280314_100280315insC	ENST00000275732.5	-	20	3707_3708	c.2498_2499insG	c.(2497-2499)ggcfs	p.G833fs		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	833										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCTT	0.693													7	45	---	---	---	---					
TRAV29DV5	28653	broad.mit.edu	37	14	22631320	22631322	+	RNA	DEL	AAT	AAT	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:22631320_22631322delAAT	ENST00000390458.3	+	0	163																											GGGAGGTTTGAATATAGTAAGAA	0.463											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	53	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28927411	28927415	+	RNA	DEL	AGGGA	AGGGA	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:28927411_28927415delAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1																						GTTTAAAAATagggaagggaaggga	0.463													4	5	---	---	---	---					
KIAA0100	9703	broad.mit.edu	37	17	26971195	26971201	+	Frame_Shift_Del	DEL	CCACAAG	CCACAAG	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:26971195_26971201delCCACAAG	ENST00000528896.2	-	2	147_153	c.73_79delCTTGTGG	c.(73-81)cttgtggtcfs	p.LVV25fs	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	25						extracellular region		p.V26M(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCCAACCGGACCACAAGCCACCTGCAG	0.483											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	116	---	---	---	---