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
VIL1	7429	broad.mit.edu	37	2	219295519	219295519	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:219295519C>T	uc002vib.3	+	8	1042	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	VIL1_uc010zke.2_Silent_p.A29A|VIL1_uc002via.3_Silent_p.A340A|VIL1_uc002vic.1_Silent_p.A340A	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	340	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGTCGGCCGTCTTTCAGC	0.597000													13	34					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926252	21926252	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:21926252T>C	uc001rff.3	-	1	637	c.299A>G	c.(298-300)gAc>gGc	p.D100G		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	100						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AGCATAGATGTCCCCATGGGC	0.507000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	34					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65408733	65408733	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:65408733G>A	uc001ofb.2	+	1	508	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SIPA1_uc010rom.1_Missense_Mutation_p.R114Q|SIPA1_uc001ofd.2_Missense_Mutation_p.R114Q	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	114					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTTGAGCCTCGATGGTTTGCC	0.632000													52	75					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912924	77912924	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:77912924G>T	uc022bzi.1	-	0	994	c.994C>A	c.(994-996)Ctc>Atc	p.L332I	ZCCHC5_uc004edc.1_Missense_Mutation_p.L332I	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	332							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCTTGGCAGAGTTGATGGATG	0.463000													9	18					2.74318e-10	2.95419e-10	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101588788	101588788	+	Silent	SNP	A	A	G			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr15:101588788A>G	uc002bwr.3	+	21	3544	c.3225A>G	c.(3223-3225)acA>acG	p.T1075T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Intron	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1075					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGTAGCACATTCAGAGTGA	0.448000													45	28					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115811700	115811700	+	Silent	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:115811700T>C	uc011lwz.1	-	2	364	c.336A>G	c.(334-336)agA>agG	p.R112R	ZFP37_uc004bgm.1_Silent_p.R97R|ZFP37_uc011lxa.1_Silent_p.R98R	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTGACTGGGTCTTTTCCCCT	0.403000													22	6					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960425	33960425	+	Silent	SNP	T	T	G			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:33960425T>G	uc001bxj.4	+	7	2648	c.2481T>G	c.(2479-2481)ccT>ccG	p.P827P	ZSCAN20_uc009vui.3_Silent_p.P826P	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	827					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAGTGAGCCTGGGGGAAACT	0.448000													77	112					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513534	50513534	+	Silent	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:50513534T>C	uc003tpd.3	-	3	1822	c.1452A>G	c.(1450-1452)gcA>gcG	p.A484A	FIGNL1_uc003tpb.3_Silent_p.A373A|FIGNL1_uc003tpc.3_Silent_p.A484A|FIGNL1_uc003tpe.3_Silent_p.A484A|FIGNL1_uc010kyy.3_Silent_p.A484A|FIGNL1_uc022ada.1_Silent_p.A484A	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	484					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CAGCAAACAATGCACGGACCA	0.443000													43	59					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953247	196953247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:196953247C>T	uc001gts.4	+	2	538	c.410C>T	c.(409-411)cCt>cTt	p.P137L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	137	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGGTCCACTCCTCCCATATGC	0.348000													15	31					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135522404	135522404	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:135522404T>C	uc004cbq.1	-	11	1476	c.1324A>G	c.(1324-1326)Agt>Ggt	p.S442G	DDX31_uc010mzu.1_Missense_Mutation_p.S442G|DDX31_uc004cbr.1_Missense_Mutation_p.S442G	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	442	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACAGAAATACTGACTGGATCA	0.493000													31	44					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789589	6789589	+	Silent	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:6789589G>A	uc001meq.1	-	0	600	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493000													10	15					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:12501446T>C	uc010dyt.3	-	3	1970	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	27					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr20:29628299A>G	uc010ztl.1	+	2	243	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													3	63					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400076	90400076	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:90400076C>T	uc021opq.1	+	0	1449	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_uc001dnm.3_Silent_p.P483P|LRRC8D_uc001dnn.3_Silent_p.P483P	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468000													13	28					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107449	107449	+	RNA	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrGL000211.1:107449C>T	uc003boa.3	+	4		c.989C>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AACATTGACACAGGTAAGGGT	0.303000													3	18					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132434	11132434	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:11132434C>A	uc010dxp.3	+	19	3010	c.2650C>A	c.(2650-2652)Cac>Aac	p.H884N	SMARCA4_uc010dxo.3_Missense_Mutation_p.H884N|SMARCA4_uc002mqf.4_Missense_Mutation_p.H884N|SMARCA4_uc002mqg.1_Missense_Mutation_p.H884N|SMARCA4_uc010dxq.3_Missense_Mutation_p.H884N|SMARCA4_uc010dxr.3_Missense_Mutation_p.H884N|SMARCA4_uc002mqj.4_Missense_Mutation_p.H884N|SMARCA4_uc010dxs.3_Missense_Mutation_p.H884N|SMARCA4_uc010dxt.1_Missense_Mutation_p.H104N|SMARCA4_uc002mqh.4_Missense_Mutation_p.H7N|SMARCA4_uc002mqi.1_Missense_Mutation_p.H87N	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGACGAAGGTCACCGCATGAA	0.622000			"""F, N, Mis"""		NSCLC								13	16					6.72482e-11	7.38412e-11	1	1	0
ZNF138	7697	broad.mit.edu	37	7	64292367	64292367	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:64292367A>C	uc011kdq.2	+	2	845	c.669A>C	c.(667-669)aaA>aaC	p.K223N	ZNF138_uc003ttg.3_Missense_Mutation_p.K192N|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.K217N|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	223					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.K192K(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTGGAGAAAAACCCTATAAAT	0.368000													16	13					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr10:37430773G>A	uc021ppc.1	+	6	879	c.780G>A	c.(778-780)acG>acA	p.T260T	ANKRD30A_uc001iza.1_Silent_p.T260T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGACACGGCTGAAAGCT	0.493000													3	43					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								27	39					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			8	0					0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161578	90161578	+	Silent	SNP	G	G	A	rs13337896	by1000genomes	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr16:90161578G>A	uc002fqq.3	+	3	504	c.504G>A	c.(502-504)acG>acA	p.T168T	BC139719_uc002fqp.3_Silent_p.T151T					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	54					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197585312	197585312	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:197585312C>A	uc002utp.1	+	19	2314	c.2179C>A	c.(2179-2181)Cag>Aag	p.Q727K	CCDC150_uc010zgs.1_Missense_Mutation_p.Q374K|CCDC150_uc010zgt.1_Missense_Mutation_p.Q144K|CCDC150_uc002utq.1_Missense_Mutation_p.Q42K|CCDC150_uc002utr.1_Missense_Mutation_p.Q42K	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	727										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTCAATCAACAGAGGGTGCA	0.448000													8	31					5.18039e-06	5.37226e-06	1	1	0
SLC25A1	6576	broad.mit.edu	37	22	19164192	19164192	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr22:19164192T>G	uc021wlb.1	-	5	672	c.667A>C	c.(667-669)Aag>Cag	p.K223Q	SLC25A1_uc002zoy.3_Missense_Mutation_p.K113Q|SLC25A1_uc002zoz.3_Missense_Mutation_p.K216Q	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	216					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTCATGGGCTTGTTGGGGTTG	0.592000													11	21					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943402	27943402	+	Silent	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:27943402G>A	uc001boj.3	-	4	794	c.648C>T	c.(646-648)ttC>ttT	p.F216F	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Silent_p.F216F|FGR_uc001bol.3_Silent_p.F216F|FGR_uc001bom.3_Silent_p.F216F	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	216	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACCGAGTTGAACTGAACCC	0.562000													47	101					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61958113	61958113	+	Silent	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr10:61958113T>C	uc001jky.3	-	13	2012	c.1674A>G	c.(1672-1674)ttA>ttG	p.L558L	ANK3_uc010qih.2_Silent_p.L541L|ANK3_uc001jkz.4_Silent_p.L552L|ANK3_uc001jlb.1_Silent_p.L87L|ANK3_uc001jlc.1_Silent_p.L219L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	558					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S557P(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTTATAGATAAAGACGCTC	0.498000													11	15					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974662	16974662	+	RNA	SNP	C	C	A	rs28460410	by1000genomes	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:16974662C>A	uc010och.2	+	6		c.1122C>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCTACCAGATCCGGCGTTGTA	0.692000													4	36					0.00448238	0.00456388	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27804533	27804533	+	Silent	SNP	T	T	C	rs112180798		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:27804533T>C	uc002rkz.4	+	0	5145	c.5094T>C	c.(5092-5094)tcT>tcC	p.S1698S	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1698	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCTCAGAGGAGCC	0.587000													5	132					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65174991	65174991	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:65174991C>T	uc010wqk.2	-	12	1401	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.R405H	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348000													14	24					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348774	348774	+	Silent	SNP	G	G	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr6:348774G>T	uc003msx.3	+	6	880	c.441G>T	c.(439-441)cgG>cgT	p.R147R	DUSP22_uc011dhn.1_Silent_p.R147R|DUSP22_uc003msy.1_Silent_p.R104R	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCAGTATCGGCAGTGGCTGA	0.522000													18	75					2.98393e-07	3.15283e-07	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	109					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940576	144940576	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:144940576C>T	uc003zaa.1	-	0	6859	c.6846G>A	c.(6844-6846)tcG>tcA	p.S2282S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2282						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCTCCACCGACAGCCTCA	0.736000													3	64					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488448	51488448	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:51488448G>A	uc004dpl.3	+	0	1968	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	576					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACCCCGCTTCGTGAAACAAGA	0.418000													20	15					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110287672	110287672	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:110287672A>C	uc003ynb.4	-	6	1193	c.1082T>G	c.(1081-1083)gTa>gGa	p.V361G	NUDCD1_uc003yna.3_Missense_Mutation_p.V332G|NUDCD1_uc010mcl.3_Missense_Mutation_p.V274G|NUDCD1_uc010mcm.1_Missense_Mutation_p.V274G	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	361	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATCTCCAATTACTAGCTCTGG	0.383000													10	21					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249016	140249016	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr5:140249016G>A	uc003lia.2	+	0	1186	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.V110M	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	125	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.552000													122	134					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	109					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16487940	16487940	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:16487940C>T	uc002ndx.3	-	21	2379	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	EPS15L1_uc002ndy.3_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc002ndz.1_Silent_p.P791P|EPS15L1_uc010xpf.1_Silent_p.P694P|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	791	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GACCGCTGGGCGGTTTAGGCC	0.612000											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	19					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75171665	75171665	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:75171665C>T	uc003yae.3	-	2	1253	c.1213G>A	c.(1213-1215)Gcg>Acg	p.A405T	JPH1_uc003yaf.3_Missense_Mutation_p.A405T|JPH1_uc003yag.1_Missense_Mutation_p.A269T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	405	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACAGCTCTCGCGATGTCGCAC	0.607000													18	22					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:197091601G>A	uc001gtu.3	-	13	3772	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_uc001gtv.3_Missense_Mutation_p.T1172M|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1172	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.T1172M(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTTTGCGTACATTCCAC	0.413000													9	19					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452008	138452008	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr4:138452008T>C	uc003ihe.4	-	0	1622	c.1235A>G	c.(1234-1236)gAa>gGa	p.E412G	PCDH18_uc003ihf.4_Missense_Mutation_p.E405G|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E192G|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	412	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATAATTGTTTTCATATGTCTT	0.403000													3	23					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079638	34079638	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:34079638C>T	uc002hjv.2	-	0	260	c.232G>A	c.(232-234)Gcc>Acc	p.A78T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	78	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGAAGGCCAGGGCAGCG	0.652000													21	30					0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123525932	123525932	+	Silent	SNP	C	C	T			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:123525932C>T	uc010nqy.3	-	27	5722	c.5658G>A	c.(5656-5658)ggG>ggA	p.G1886G	ODZ1_uc011muj.2_Silent_p.G1885G|ODZ1_uc004euj.3_Silent_p.G1879G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1879					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCCAAATTTTCCCATCAGCCC	0.378000													9	7					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80374454	80374454	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:80374454G>A	uc011kgw.2	-	17	2145	c.2066C>T	c.(2065-2067)aCg>aTg	p.T689M	SEMA3C_uc003uhj.3_Missense_Mutation_p.T671M	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	671					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATTTGTCCGTCACAACAGC	0.478000													19	31					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19489486	19489486	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:19489486A>C	uc001reb.3	+	15	2285	c.2177A>C	c.(2176-2178)gAa>gCa	p.E726A	PLEKHA5_uc010sie.2_Missense_Mutation_p.E829A|PLEKHA5_uc001rea.3_Missense_Mutation_p.E784A|PLEKHA5_uc009zin.3_Missense_Mutation_p.E484A|PLEKHA5_uc010sig.2_Missense_Mutation_p.E645A|PLEKHA5_uc010sih.1_Missense_Mutation_p.E618A|PLEKHA5_uc021qvy.1_Missense_Mutation_p.E657A|PLEKHA5_uc001rec.1_Missense_Mutation_p.E472A|PLEKHA5_uc009zio.3_Missense_Mutation_p.E48A	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	726							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATAAGTTAGAATACGATGTA	0.348000													20	28					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:156642804delG	uc001fpq.3	-	3	1309	c.1176delC	c.(1174-1176)cccfs	p.P392fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	392	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597													7	293	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													8	89	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr6:41621169_41621171delCTG	uc003oqq.4	+	4	804_806	c.597_599delCTG	c.(595-600)ctctgc>ctc	p.C204del	MDFI_uc010jxn.3_In_Frame_Del_p.C204del	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	204	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													13	188	---	---	---	---					
SEC63	11231	broad.mit.edu	37	6	108214774	108214774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr6:108214774delT	uc003psc.4	-	15	1855	c.1586delA	c.(1585-1587)aagfs	p.K529fs	SEC63_uc003psb.4_Frame_Shift_Del_p.K389fs	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	529	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.K529fs*4(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TAAAGGTTTCTTTTTTTTTGA	0.368													2	4	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:50350672_50350674delTCT	uc004dpe.2	-	5	3494_3496	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													3	6	---	---	---	---					
RBM41	55285	broad.mit.edu	37	X	106331986	106331986	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:106331986delC	uc004emz.3	-	4	661	c.607delG	c.(607-609)gaafs	p.E203fs	RBM41_uc004emy.2_Frame_Shift_Del_p.E203fs	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	203							RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAAACTCTTCAAGACGTTTT	0.428													15	27	---	---	---	---					
