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
DARC	2532	broad.mit.edu	37	1	159175495	159175495	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:159175495G>A	uc001ftp.4	+	0	447	c.272G>A	c.(271-273)cGc>cAc	p.R91H	DARC_uc001fto.3_Missense_Mutation_p.R89H	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	89					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTCTCTTCCGCTGGCAGCTC	0.602												
OBSCN	84033	broad.mit.edu	37	1	228529316	228529316	+	Splice_Site	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:228529316G>A	uc009xez.1	+	74	18078	c.18034_splice	c.e74+1	p.R6012_splice	OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6012					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			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)				CCTGTGTGGCGTGAGTGTCCA	0.667												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
AGAP6	414189	broad.mit.edu	37	10	51748567	51748567	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:51748567C>T	uc001jix.4	+	0	490	c.92C>T	c.(91-93)aCc>aTc	p.T31I		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	31					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GAATCTGAGACCTATGAGGCA	0.597												
VENTX	27287	broad.mit.edu	37	10	135053299	135053299	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:135053299C>T	uc010quy.1	+	1	372	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	121					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCTCTGGAGCGGAAGAGGCT	0.687												
OR4C3	256144	broad.mit.edu	37	11	48346680	48346680	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48346680C>T	uc010rhv.2	+	0	188	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGTGGTCACGGTTTGTGGC	0.463												
OR4A47	403253	broad.mit.edu	37	11	48510660	48510660	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48510660G>A	uc010rhx.2	+	0	316	c.316G>A	c.(316-318)Ggt>Agt	p.G106S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GCACATTTTCGGTGGGTCAGA	0.453												
OR5W2	390148	broad.mit.edu	37	11	55681751	55681751	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:55681751A>G	uc010rir.2	-	0	308	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V103V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATACAGAAGACCAAGAATTG	0.468												
GANAB	23193	broad.mit.edu	37	11	62400735	62400735	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:62400735C>T	uc001nua.3	-	7	738	c.705G>A	c.(703-705)gaG>gaA	p.E235E	GANAB_uc001nub.3_Silent_p.E213E|GANAB_uc001nuc.3_Silent_p.E116E|GANAB_uc010rma.2_Silent_p.E121E|GANAB_uc010rmb.2_Silent_p.E99E	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	213					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCCCCTGAGTCTCCTCTGGCT	0.527												
USP28	57646	broad.mit.edu	37	11	113672259	113672259	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:113672259C>T	uc001poh.3	-	23	3037	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	USP28_uc001pog.3_Missense_Mutation_p.A678T|USP28_uc010rwy.2_Missense_Mutation_p.A845T|USP28_uc001poi.3_Missense_Mutation_p.A325T	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	1002					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTCAATGGCATCCAGATCA	0.393												
DDX25	29118	broad.mit.edu	37	11	125788549	125788549	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:125788549C>T	uc001qcz.4	+	9	1206	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	DDX25_uc010sbk.2_Silent_p.T355T	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	355	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGTGGTTGACCGTGGAGATGA	0.512												
LRRK2	120892	broad.mit.edu	37	12	40618993	40618996	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:40618993_40618996delAGTC	uc001rmg.4	+	0	181_184	c.60_63delAGTC	c.(58-63)atagtcfs	p.I20fs		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	20					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGTTGATAGTCAGGCTGAACA	0.544												
PTPRB	5787	broad.mit.edu	37	12	70928634	70928634	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:70928634G>A	uc001swb.4	-	27	5559	c.5529C>T	c.(5527-5529)atC>atT	p.I1843I	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.I1753I|PTPRB_uc010stp.2_Silent_p.I1753I|PTPRB_uc001swc.4_Silent_p.I2061I|PTPRB_uc001swa.4_Silent_p.I1973I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1843	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAACTCCCGGATGGTCCACT	0.512												
UHRF1BP1L	23074	broad.mit.edu	37	12	100451481	100451482	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:100451481_100451482delAG	uc001tgq.3	-	14	3520_3521	c.3291_3292delCT	c.(3289-3294)ctctgtfs	p.L1097fs	UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.L747fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1097										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAGAAACACAGAGAGGAGCCA	0.332												
SLC24A6	80024	broad.mit.edu	37	12	113737741	113737741	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:113737741G>A	uc001tvc.3	-	15	1806	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	SLC24A6_uc001tuz.3_Silent_p.G237G|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.G270G	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	532					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GCCCCAGGGCGCCTGCCAGGA	0.627												
KSR2	283455	broad.mit.edu	37	12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:118105354G>A	uc001two.2	-	4	1064	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	366					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602												
GCN1L1	10985	broad.mit.edu	37	12	120628101	120628101	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:120628101C>T	uc001txo.3	-	2	134	c.121_splice	c.e2+1	p.D41_splice		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	41					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATAAATACCTTTTCCAGCA	0.393												
NEK3	4752	broad.mit.edu	37	13	52728302	52728302	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr13:52728302A>G	uc001vgh.3	-	1	1418	c.187T>C	c.(187-189)Tct>Cct	p.S63P	NEK3_uc001vgi.3_Missense_Mutation_p.S42P|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.S42P	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	42	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTGTATTAGAGAAAGACTAG	0.284												
RIN3	79890	broad.mit.edu	37	14	93022210	93022210	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr14:93022210G>A	uc001yap.3	+	1	311	c.159G>A	c.(157-159)ctG>ctA	p.L53L	RIN3_uc010auk.3_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	53					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCAGCATCCTGGAGAAGCTCA	0.612												
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:22709152G>T	uc010axw.2	-	10	1245	c.347C>A	c.(346-348)gCg>gAg	p.A116E	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		GGCCTGGAGCGCTCCTGCCAC	0.607												
TJP1	7082	broad.mit.edu	37	15	30053400	30053400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:30053400G>A	uc001zcr.3	-	7	1427	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TJP1_uc010azl.3_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.3_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.3_Nonsense_Mutation_p.Q318*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	318					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGACCGCTGGTCAGGAGAT	0.488												
MAPKBP1	23005	broad.mit.edu	37	15	42067489	42067489	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:42067489T>G	uc001zok.4	+	1	302	c.16T>G	c.(16-18)Tca>Gca	p.S6A	MAPKBP1_uc010bci.3_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	6										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGTGGAAGGGTCAACCATTAC	0.557												
SEMA7A	8482	broad.mit.edu	37	15	74708161	74708161	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:74708161C>T	uc002axv.3	-	7	1007	c.967G>A	c.(967-969)Ggt>Agt	p.G323S	SEMA7A_uc010ulk.2_Missense_Mutation_p.G158S|SEMA7A_uc010ull.2_Missense_Mutation_p.G309S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	323	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGAAAACACCATAGACCCTG	0.612												
FBXO22	26263	broad.mit.edu	37	15	76196838	76196838	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:76196838C>T	uc002bbk.3	+	1	252	c.147C>T	c.(145-147)tgC>tgT	p.C49C	FBXO22_uc002bbj.2_Silent_p.C49C|FBXO22_uc002bbl.3_Intron	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	49	F-box.				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGCGTGTGCCGCTTATGGA	0.622												
ZNF174	7727	broad.mit.edu	37	16	3458790	3458790	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:3458790G>A	uc002cvc.3	+	2	1910	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	365					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GCTTTGGGCGGCAGTCAACCC	0.542												
DNAH3	55567	broad.mit.edu	37	16	21080833	21080833	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:21080833G>A	uc010vbe.2	-	22	3284	c.3284C>T	c.(3283-3285)cCa>cTa	p.P1095L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1095	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTGAAGATTGGTTCCAGGTA	0.438												
SRCAP	10847	broad.mit.edu	37	16	30734359	30734359	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30734359C>G	uc002dze.1	+	23	4353	c.3968C>G	c.(3967-3969)cCt>cGt	p.P1323R	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1323	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACTGACTCCTGTTCCTCCA	0.587												
SRCAP	10847	broad.mit.edu	37	16	30749342	30749342	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30749342delG	uc002dze.1	+	33	8366	c.7981delG	c.(7981-7983)gatfs	p.D2661fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2661	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAGCATCTGATGAGCCACT	0.602												
RLTPR	146206	broad.mit.edu	37	16	67683468	67683468	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:67683468G>A	uc002etn.3	+	19	1985	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.2_Missense_Mutation_p.G586E	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	622	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACGCCATGGGGGACGCGGGC	0.701												
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	rs121912655		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:7577556C>T	uc002gim.2	-	6	919	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.3_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(156)|p.C242Y(85)|p.S241F(78)|p.C242S(43)|p.S241C(24)|p.C242fs*5(16)|p.C242R(12)|p.S241A(9)|p.S241fs*6(9)|p.0?(8)|p.S241Y(8)|p.C242W(7)|p.N239_C242delNSSC(6)|p.C149F(6)|p.S241T(6)|p.S241del(5)|p.?(5)|p.C242*(3)|p.S241S(3)|p.S241P(3)|p.C242fs*20(2)|p.C242G(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.C242C(2)|p.C242fs*98(2)|p.C149Y(2)|p.H233_C242del10(2)|p.S241fs*22(2)|p.S241_G245delSCMGG(2)|p.C242fs*23(1)|p.N239fs*4(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH8	4626	broad.mit.edu	37	17	10304743	10304743	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:10304743G>A	uc002gmm.2	-	23	3052	c.2957C>T	c.(2956-2958)gCa>gTa	p.A986V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	986					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCAGGCCTGCCATCTCTTC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling			
CNDP1	84735	broad.mit.edu	37	18	72226676	72226676	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr18:72226676G>A	uc002llq.3	+	2	483	c.272G>A	c.(271-273)cGt>cAt	p.R91H	BC047599_uc002llr.3_Non-coding_Transcript	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	91					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGGGGCCCGTGTGGCCTCG	0.632												
CATSPERD	257062	broad.mit.edu	37	19	5776309	5776309	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:5776309C>T	uc002mda.3	+	20	2140	c.2079C>T	c.(2077-2079)atC>atT	p.I693I		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	693						integral to membrane											ACATTTCGATCGTGGATCCGT	0.582												
MUC16	94025	broad.mit.edu	37	19	9090864	9090864	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:9090864G>A	uc002mkp.3	-	0	1155	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	317	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGGCTCTGGCCTCGGGCA	0.498												
MAST1	22983	broad.mit.edu	37	19	12979571	12979571	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:12979571G>A	uc002mvm.3	+	20	2809	c.2681G>A	c.(2680-2682)gGg>gAg	p.G894E		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	894					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G894E(3)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGATGTCAGGGGATGTGGCA	0.577												
ZNF626	199777	broad.mit.edu	37	19	20808078	20808078	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:20808078T>A	uc002npb.1	-	3	755	c.605A>T	c.(604-606)aAa>aTa	p.K202I	ZNF626_uc002npc.1_Missense_Mutation_p.K126I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTCTTCACATTTGTAGGGTTT	0.368												
FKRP	79147	broad.mit.edu	37	19	47258817	47258817	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:47258817G>A	uc002pfn.2	+	3	407	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	FKRP_uc002pfp.2_Missense_Mutation_p.R37Q|FKRP_uc021uwj.1_Missense_Mutation_p.R37Q	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	37						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TCCCGGGCCCGGGGGCCCCGT	0.677												
LILRB3	11025	broad.mit.edu	37	19	54724484	54724484	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54724484G>A	uc010erh.1	-	5	1296	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qef.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	391	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.607												
LILRB3	79168	broad.mit.edu	37	19	54744236	54744236	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54744236G>A	uc010erh.1	-						LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.A391V|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Missense_Mutation_p.A391V|LILRB3_uc010yeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.A391V|LILRB3_uc002qev.1_Missense_Mutation_p.A252V	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.A391V(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.592												
GALNT3	2591	broad.mit.edu	37	2	166611230	166611230	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:166611230G>A	uc010fph.1	-	8	1920	c.1533C>T	c.(1531-1533)agC>agT	p.S511S		NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	511	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCTGACCAACGCTTTTAATCT	0.303												
SESTD1	91404	broad.mit.edu	37	2	180014058	180014058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:180014058C>A	uc002uni.4	-	6	697	c.547G>T	c.(547-549)Gga>Tga	p.G183*		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	183					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATCACTTCCATTGTTAATC	0.308												
SP100	6672	broad.mit.edu	37	2	231328786	231328786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:231328786delC	uc002vqt.3	+	10	1203	c.1062delC	c.(1060-1062)atcfs	p.I354fs	SP100_uc002vqs.3_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.2_Frame_Shift_Del_p.I354fs|SP100_uc010zmc.2_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.2_Frame_Shift_Del_p.I319fs	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	354					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGCAGTGATCAATAATGACA	0.408												
ERG	2078	broad.mit.edu	37	21	39764312	39764312	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr21:39764312G>A	uc010gnw.3	-	8	1116	c.821C>T	c.(820-822)aCg>aTg	p.T274M	ERG_uc021wjd.1_Missense_Mutation_p.T274M|ERG_uc002yxa.3_Missense_Mutation_p.T267M|ERG_uc011aek.2_Missense_Mutation_p.T175M|ERG_uc010gnv.3_Missense_Mutation_p.T151M|ERG_uc010gnx.3_Missense_Mutation_p.T250M|ERG_uc011ael.2_Missense_Mutation_p.T274M|ERG_uc002yxb.3_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_Non-coding_Transcript	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	274					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T274M(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CGACTGGGGCGTGGGGTGGCC	0.448			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""							
TRAT1	50852	broad.mit.edu	37	3	108572602	108572602	+	Missense_Mutation	SNP	G	G	A	rs142175794	byFrequency	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:108572602G>A	uc003dxi.1	+	5	583	c.439G>A	c.(439-441)Gtt>Att	p.V147I	TRAT1_uc010hpx.1_Missense_Mutation_p.V110I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	147					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGCCAGCGTTTCTAAGAC	0.458												
PARP9	83666	broad.mit.edu	37	3	122274913	122274913	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:122274913G>C	uc010hri.3	-	3	355	c.210C>G	c.(208-210)gaC>gaG	p.D70E	PARP9_uc003eff.4_Missense_Mutation_p.D35E|PARP9_uc011bjs.2_Missense_Mutation_p.D35E|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.D35E|PARP9_uc003efh.3_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	70					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAATTTTGAAGTCATTGTGGT	0.353												
DBR1	51163	broad.mit.edu	37	3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:137880744_137880746delTCA	uc003erv.3	-	7	1774_1776	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	540						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399												
KIT	3815	broad.mit.edu	37	4	55564507	55564507	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:55564507C>T	uc010igr.3	+	2	482	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KIT_uc010igs.3_Missense_Mutation_p.T132M	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	132	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D131N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACAACGACACGCTGGTCCGC	0.498		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors			
AASDH	132949	broad.mit.edu	37	4	57220268	57220268	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:57220268C>A	uc003hbn.3	-	7	1473	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Missense_Mutation_p.L340F|AASDH_uc011caa.2_Missense_Mutation_p.L287F|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Missense_Mutation_p.L440F|AASDH_uc003hbp.3_Missense_Mutation_p.L440F	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	440					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTTTTCGTCCCAAAAAAAAAA	0.363												
SULT1B1	27284	broad.mit.edu	37	4	70592883	70592883	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:70592883C>T	uc003hen.3	-	7	1112	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCATTTTGGGCCACGGTGAAG	0.343												
FRAS1	80144	broad.mit.edu	37	4	79447726	79447726	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:79447726C>G	uc003hlb.2	+	69	11280	c.10840C>G	c.(10840-10842)Ctg>Gtg	p.L3614V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3609					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCATCTACCTGATCCCTTG	0.517												
FAT1	2195	broad.mit.edu	37	4	187522529	187522529	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:187522529G>A	uc003izf.3	-	20	11722	c.11534C>T	c.(11533-11535)aCg>aTg	p.T3845M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3845	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.T3845M(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCATTTTCCGTCAGACGGTA	0.413										HNSCC(5;0.00058)		
PCDHB7	56129	broad.mit.edu	37	5	140553530	140553530	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:140553530G>C	uc003lit.3	+	0	1288	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	372	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGATTAGAGACAGAGATTC	0.468												
GM2A	2760	broad.mit.edu	37	5	150639411	150639411	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150639411C>T	uc003ltr.4	+	1	342	c.177C>T	c.(175-177)atC>atT	p.I59I	GM2A_uc011dcr.2_Silent_p.I59I|GM2A_uc003ltt.1_5'UTR	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	59			I -> V (in dbSNP:rs153477).			lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCATCATCGTTCCTGGAA	0.587												
FAT2	2196	broad.mit.edu	37	5	150922530	150922530	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150922530C>G	uc003lue.4	-	8	8171	c.8158G>C	c.(8158-8160)Gat>Cat	p.D2720H		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2720	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGACTGGATCTTGAGCTGCC	0.478												
SLIT3	6586	broad.mit.edu	37	5	168233574	168233574	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:168233574G>T	uc010jjg.3	-	8	1232	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	SLIT3_uc003mab.3_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	271	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGCAGGATGGGGGCTCCGA	0.567												
FOXI1	2299	broad.mit.edu	37	5	169535115	169535115	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:169535115C>T	uc003mai.4	+	1	682	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	213					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAATTTCCGCAGGAAAAG	0.488									Pendred syndrome			
ARID1B	57492	broad.mit.edu	37	6	157495209	157495209	+	Silent	SNP	C	C	T	rs147853607		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr6:157495209C>T	uc003qqp.3	+	9	3054	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	ARID1B_uc003qqo.3_Silent_p.D1031D|ARID1B_uc003qqn.3_Silent_p.D1018D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1018					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAAAGCAGACGGCAAAGAAG	0.507												
GCC1	79571	broad.mit.edu	37	7	127222986	127222986	+	Silent	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:127222986A>G	uc003vma.3	-	1	1828	c.1410T>C	c.(1408-1410)gcT>gcC	p.A470A		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	470						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCATCAGCAGCCTCCGAGC	0.542												
OR2A25	392138	broad.mit.edu	37	7	143771552	143771552	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:143771552G>A	uc011ktx.2	+	0	240	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M80I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGCCCCAGATGCTGGTGAACC	0.547												
ABCB8	11194	broad.mit.edu	37	7	150737710	150737710	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:150737710C>G	uc003wil.4	+	11	1521	c.1428C>G	c.(1426-1428)aaC>aaG	p.N476K	ABCB8_uc010lpw.1_Missense_Mutation_p.N348K|ABCB8_uc010lpx.3_Missense_Mutation_p.N459K|ABCB8_uc011kvd.2_Missense_Mutation_p.N371K|ABCB8_uc003wim.4_Missense_Mutation_p.N254K|ABCB8_uc003wik.4_Missense_Mutation_p.N459K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	476	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATTTCAGAACGTCTGCTTCA	0.632												
SGK223	157285	broad.mit.edu	37	8	8235473	8235473	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:8235473G>T	uc003wsh.4	-	1	446	c.446C>A	c.(445-447)cCt>cAt	p.P149H		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	149							ATP binding|non-membrane spanning protein tyrosine kinase activity										ATTGCCATCAGGGGAGGTAGA	0.642												
PRKDC	5591	broad.mit.edu	37	8	48869810	48869810	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:48869810C>T	uc003xqi.3	-	2	302	c.245G>A	c.(244-246)aGa>aAa	p.R82K	PRKDC_uc003xqj.3_Missense_Mutation_p.R82K|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	82					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GATTTCTTCTCTACATTCACG	0.318								Non-homologous end-joining				
TSNARE1	203062	broad.mit.edu	37	8	143425640	143425640	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:143425640G>A	uc003ywj.3	-	2	471	c.432C>T	c.(430-432)caC>caT	p.H144H	TSNARE1_uc011lju.2_Silent_p.H144H|TSNARE1_uc003ywk.3_Silent_p.H144H|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	144					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCAGCTGGTGGTGCTTGC	0.667												
ZNF658	26149	broad.mit.edu	37	9	40772759	40772759	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:40772759G>A	uc004abs.2	-	4	2668	c.2516C>T	c.(2515-2517)aCa>aTa	p.T839I	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGAGGTGTGTTCTTTGGGA	0.428												
SAPCD2	89958	broad.mit.edu	37	9	139959203	139959203	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:139959203C>T	uc011men.2	-	5	1209	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_178448	NP_848543	Q86UD0	CI140_HUMAN	Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.	365						cytoplasm|nucleus											TTCTCCTGCTCCAGCTGCGTG	0.647											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TUBBP5	643224	broad.mit.edu	37	9	141071420	141071420	+	Missense_Mutation	SNP	G	G	A	rs147421666	by1000genomes	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:141071420G>A	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.D347N(3)									CTGGTTCCCCGACAACGTAAA	0.512												
HCCS	3052	broad.mit.edu	37	X	11139917	11139917	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:11139917G>A	uc004cul.2	+	6	974	c.794G>A	c.(793-795)cGt>cAt	p.R265H	HCCS_uc004cuk.3_Missense_Mutation_p.R265H|HCCS_uc004cuj.3_Missense_Mutation_p.R265H	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	265					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GCTTGGTGGCGTTGGACCTCG	0.428												
MAGEB6	158809	broad.mit.edu	37	X	26212632	26212632	+	Silent	SNP	G	G	A	rs141448892		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:26212632G>A	uc022buc.1	+	0	669	c.669G>A	c.(667-669)aaG>aaA	p.K223K	MAGEB6_uc004dbr.3_Silent_p.K223K	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	223	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACATGCTGAAGTGTGTCCGCA	0.463												
CXorf22	170063	broad.mit.edu	37	X	35985763	35985763	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:35985763C>T	uc004ddj.3	+	9	1694	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	543								p.P542P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CGTAATCCCACGGGAAAGTTT	0.353												
ZNF157	7712	broad.mit.edu	37	X	47272290	47272290	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:47272290C>T	uc004dhr.1	+	3	887	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	273					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGGAGAAACCCTATGAATGT	0.448												
MORF4L2	9643	broad.mit.edu	37	X	102931771	102931771	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:102931771C>T	uc022cbw.1	-	0	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	MORF4L2_uc004ekw.3_Missense_Mutation_p.R62H|MORF4L2_uc004ela.3_Missense_Mutation_p.R62H|MORF4L2_uc004elb.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.3_Missense_Mutation_p.R62H|MORF4L2_uc004eky.3_Missense_Mutation_p.R62H|MORF4L2_uc010nos.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.3_Missense_Mutation_p.R62H|MORF4L2_uc011mry.2_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.2_Missense_Mutation_p.R62H|MORF4L2_uc004elc.3_Missense_Mutation_p.R62H|MORF4L2_uc004ele.3_Missense_Mutation_p.R62H|MORF4L2_uc004elf.3_Missense_Mutation_p.R62H|MORF4L2_uc011msa.2_Missense_Mutation_p.R62H|MORF4L2_uc011msb.2_Missense_Mutation_p.R62H|MORF4L2_uc011msc.2_Missense_Mutation_p.R62H|MORF4L2_uc011msd.2_Missense_Mutation_p.R62H|MORF4L2_uc004eld.3_Missense_Mutation_p.R62H	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	62					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTCTGCAGAGCGACCACCCCA	0.532												
MID2	11043	broad.mit.edu	37	X	107084129	107084129	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107084129C>T	uc004enl.3	+	1	807	c.234C>T	c.(232-234)acC>acT	p.T78T	MID2_uc004enk.3_Silent_p.T78T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	78						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGTCCTACCTGCAGGTATG	0.512												
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
ELF4	2000	broad.mit.edu	37	X	129201458	129201458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:129201458delG	uc004evd.4	-	8	1615	c.1230delC	c.(1228-1230)cccfs	p.P410fs	ELF4_uc004eve.4_Frame_Shift_Del_p.P410fs	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	410					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCGACCCCACGGGGGCCACTC	0.592			T	ERG	AML							
IGSF1	3547	broad.mit.edu	37	X	130416634	130416634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:130416634G>A	uc004ewe.4	-	6	1313	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.R344*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.R335*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	344	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACTGGTCCTCGACACCGTAGG	0.488												
DDX26B	203522	broad.mit.edu	37	X	134655171	134655171	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:134655171C>T	uc004eyw.4	+	1	480	c.117C>T	c.(115-117)cgC>cgT	p.R39R		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	39	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCTGCGCGCCCGGGACC	0.632												
