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
HSPG2	3339	broad.mit.edu	37	1	22154901	22154901	+	Missense_Mutation	SNP	G	G	A	rs146179360	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:22154901G>A	uc009vqd.3	-	88	12299	c.12259C>T	c.(12259-12261)Cgg>Tgg	p.R4087W	HSPG2_uc001bfi.3_Missense_Mutation_p.R103W|HSPG2_uc001bfj.3_Missense_Mutation_p.R4086W	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	4086	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTCCAGCCGTTTGCCATTC	0.597												
GRHL3	57822	broad.mit.edu	37	1	24661135	24661135	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:24661135G>T	uc021oiw.1	+	3	435	c.205_splice	c.e3-1	p.G69_splice	GRHL3_uc001bix.3_Splice_Site_p.G69_splice|GRHL3_uc021oix.1_Splice_Site_p.G23_splice|GRHL3_uc001biy.3_Splice_Site_p.G74_splice|GRHL3_uc001biz.3_Splice_Site	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	69	Transcription activation.				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTCTTCTCAGGGTCCCAAGGA	0.552												
FAM73A	374986	broad.mit.edu	37	1	78338781	78338781	+	Silent	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:78338781G>C	uc010ork.2	+	14	1691	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L	FAM73A_uc001dhx.3_Silent_p.L552L|FAM73A_uc010orl.2_Silent_p.L515L	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	552						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAATTCTCTGTATGATTTAT	0.358												
TTLL7	79739	broad.mit.edu	37	1	84408356	84408356	+	Silent	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:84408356A>T	uc001djc.3	-	6	909	c.513T>A	c.(511-513)tcT>tcA	p.S171S	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	171	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCTTATCAAAGAAATCCTAT	0.294												
KCNA10	3744	broad.mit.edu	37	1	111060530	111060530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:111060530G>A	uc001dzt.1	-	0	1268	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	294						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTCTTGCTGGGGCAGACCACG	0.512												
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:145360624G>A	uc021oul.1	+	73	9284	c.9249G>A	c.(9247-9249)tcG>tcA	p.S3083S	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3083								p.S3083S(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478												
FLG2	388698	broad.mit.edu	37	1	152326101	152326101	+	Silent	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:152326101T>C	uc001ezw.4	-	2	4234	c.4161A>G	c.(4159-4161)agA>agG	p.R1387R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1387							calcium ion binding|structural molecule activity	p.E1386D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGTTTCATGTCTCTCATGAA	0.507												
RNPEP	6051	broad.mit.edu	37	1	201966632	201966632	+	Missense_Mutation	SNP	A	A	T	rs114130028		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:201966632A>T	uc001gxd.3	+	4	1069	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	RNPEP_uc001gxe.3_Missense_Mutation_p.N48I	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	347					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TTCTGGCTCAATGAAGGTTTC	0.542												
RPS6KC1	26750	broad.mit.edu	37	1	213414537	213414537	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:213414537T>C	uc010ptr.2	+	10	1877	c.1718T>C	c.(1717-1719)tTc>tCc	p.F573S	RPS6KC1_uc001hkd.3_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.2_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.2_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.3_Missense_Mutation_p.F392S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	573					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTGAAGTTCTTCCCCAACGAT	0.458												
OR4S1	256148	broad.mit.edu	37	11	48328474	48328474	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:48328474G>T	uc010rhu.2	+	0	700	c.700G>T	c.(700-702)Gct>Tct	p.A234S		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CCGGCGTAAGGCTGTCTCCAC	0.468												
CD5	921	broad.mit.edu	37	11	60890382	60890382	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:60890382A>G	uc009ynk.3	+	6	1206	c.1103A>G	c.(1102-1104)cAg>cGg	p.Q368R		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	368	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCCCAGGCCAGGATCCAAAC	0.657												
TUT1	64852	broad.mit.edu	37	11	62343579	62343579	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:62343579G>A	uc001nto.2	-	8	1764	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	538					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGATTCAGGGGGCCAAGGCGC	0.637												
C11orf92	399948	broad.mit.edu	37	11	111166838	111166838	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:111166838A>G	uc001pld.3	-	1		c.2775T>C			C11orf92_uc001ple.3_Non-coding_Transcript					Homo sapiens chromosome 11 open reading frame 92 (C11orf92), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(1)	3						ATTAATGTTGAGCTACAAACC	0.433												
BUD13	84811	broad.mit.edu	37	11	116627935	116627935	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:116627935G>A	uc001ppn.3	-	8	1727	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	BUD13_uc001ppo.3_Missense_Mutation_p.R431C	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	565										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCACTGTAGCGAGGTCTCACT	0.413												
PLEKHG6	55200	broad.mit.edu	37	12	6424277	6424277	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:6424277G>A	uc001qnr.3	+	3	549	c.401G>A	c.(400-402)gGt>gAt	p.G134D	PLEKHG6_uc001qns.3_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.2_Missense_Mutation_p.G102D	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	134					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATAGGAGAGGGTGGCGACAGT	0.632												
LRP1	4035	broad.mit.edu	37	12	57563089	57563089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:57563089delG	uc001snd.3	+	20	3629	c.3163_splice	c.e20+1	p.A1055_splice	LRP1_uc009zpi.1_Splice_Site	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1055					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCAACCAGGGTGGGCACC	0.622												
LRRIQ1	84125	broad.mit.edu	37	12	85450521	85450521	+	Silent	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:85450521T>C	uc001tac.3	+	7	2061	c.1950T>C	c.(1948-1950)gcT>gcC	p.A650A	LRRIQ1_uc021rbo.1_Silent_p.A528A|LRRIQ1_uc001taa.1_Silent_p.A625A	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	650										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACAATGCTTGGAATAGTG	0.313												
NR2C1	7181	broad.mit.edu	37	12	95442924	95442924	+	Missense_Mutation	SNP	G	G	T	rs149986233		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:95442924G>T	uc001tdm.4	-	8	1307	c.1051C>A	c.(1051-1053)Cac>Aac	p.H351N	NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdn.4_Missense_Mutation_p.H351N|NR2C1_uc001tdo.4_Missense_Mutation_p.H351N	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	351					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GTGATTAGGTGTACACTTCCT	0.443												
ELK3	2004	broad.mit.edu	37	12	96640864	96640864	+	Silent	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:96640864C>T	uc001teo.1	+	2	633	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	118					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTCCGGAGGGCCGCGAGGCCC	0.612												
TPTE2	93492	broad.mit.edu	37	13	20039439	20039439	+	Missense_Mutation	SNP	C	C	T	rs146223410		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr13:20039439C>T	uc001umd.3	-	9	843	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R100Q|TPTE2_uc001ume.3_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	211	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R134Q(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTGTGTATCGCCTTTTGTT	0.308												
GZMB	3002	broad.mit.edu	37	14	25102156	25102156	+	Silent	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr14:25102156G>A	uc001wps.2	-	1	234	c.168C>T	c.(166-168)gaC>gaT	p.D56D	GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	56	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GCACGAAGTCGTCTCGTATCA	0.572												
RYR3	6263	broad.mit.edu	37	15	34137199	34137199	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:34137199G>T	uc001zhi.3	+	92	13503	c.13433G>T	c.(13432-13434)cGt>cTt	p.R4478L	RYR3_uc010bar.3_Missense_Mutation_p.R4473L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4478					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCAACCCTGCGTGCCCTGGCC	0.502												
LACTB	114294	broad.mit.edu	37	15	63433763	63433763	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:63433763A>G	uc002alw.3	+	5	1475	c.1403A>G	c.(1402-1404)gAa>gGa	p.E468G		NM_032857	NP_116246	P83111	LACTB_HUMAN	Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGTGTTGTGGAAAGGAAACAA	0.483												
BAIAP3	8938	broad.mit.edu	37	16	1392020	1392020	+	Silent	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:1392020G>A	uc002clk.2	+	9	1073	c.915G>A	c.(913-915)gcG>gcA	p.A305A	BAIAP3_uc010uuz.2_Silent_p.A270A|BAIAP3_uc010uva.2_Silent_p.A242A|BAIAP3_uc021tag.1_Silent_p.A247A|BAIAP3_uc002clj.3_Silent_p.A287A|BAIAP3_uc010uvb.2_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	305	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGTAGAAGCGTGCAGGAAGC	0.617												
PPL	5493	broad.mit.edu	37	16	4952435	4952435	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:4952435T>C	uc002cyd.1	-	3	500	c.410A>G	c.(409-411)aAc>aGc	p.N137S		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	137					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCGCCCAGTTGACCTGTGG	0.637												
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7577517A>C	uc002gim.2	-	6	958	c.764T>G	c.(763-765)aTc>aGc	p.I255S	TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.3_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S|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.	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I255S(18)|p.I255F(18)|p.I255del(14)|p.I255T(14)|p.I255N(14)|p.0?(8)|p.I254F(7)|p.I254S(6)|p.I254V(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.I255fs*90(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I254del(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.I255fs*8(2)|p.I255I(2)|p.I254I(1)|p.?(1)|p.I254fs*91(1)|p.I255M(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)		TTCCAGTGTGATGATGGTGAG	0.582		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)		
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)		
POLDIP2	26073	broad.mit.edu	37	17	26675209	26675209	+	Silent	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:26675209C>A	uc002haz.3	-	11	1165	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	POLDIP2_uc010wag.2_Non-coding_Transcript	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	347	ApaG.					mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGGGAGGAATCCGAACATCAA	0.547												
CDK12	51755	broad.mit.edu	37	17	37618715	37618716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:37618715_37618716insA	uc010cvv.3	+	0	977_978	c.391_392insA	c.(391-393)gaafs	p.E131fs	CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.4_Frame_Shift_Ins_p.E131fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	131					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GACCGAAAAAGAAAAAAGCCAA	0.520			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)		
ZNF544	27300	broad.mit.edu	37	19	58772645	58772645	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr19:58772645A>C	uc010euo.3	+	6	1147	c.673A>C	c.(673-675)Agt>Cgt	p.S225R	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.S197R|ZNF544_uc010yhy.2_Missense_Mutation_p.S197R|ZNF544_uc002qrt.4_Missense_Mutation_p.S83R|ZNF544_uc002qru.4_Missense_Mutation_p.S83R|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTTCTGTCAGAGTATTTACTT	0.378												
EPAS1	2034	broad.mit.edu	37	2	46603736	46603736	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:46603736delC	uc002ruv.3	+	8	1603	c.1093delC	c.(1093-1095)cccfs	p.P365fs		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	365					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGTTCAAGCCCCACCTGAT	0.493												
SPTBN1	6711	broad.mit.edu	37	2	54856159	54856159	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:54856159C>T	uc002rxu.3	+	13	2137	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SPTBN1_uc002rxv.1_Missense_Mutation_p.R630C|SPTBN1_uc002rxx.3_Missense_Mutation_p.R617C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	630					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCGGCTGAGCGCAGGGCCCG	0.582												
GALNT13	114805	broad.mit.edu	37	2	155099286	155099286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:155099286G>A	uc002tyt.4	+	3	658	c.554G>A	c.(553-555)cGc>cAc	p.R185H	GALNT13_uc002tyr.4_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	185	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGGAAGAACGCTCTGGGTTA	0.388												
MDH1B	130752	broad.mit.edu	37	2	207615789	207615789	+	Silent	SNP	G	G	A	rs146327472	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:207615789G>A	uc002vbs.3	-	5	976	c.921C>T	c.(919-921)gaC>gaT	p.D307D	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.D307D|MDH1B_uc021vvm.1_Silent_p.D209D	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	307					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGATCACGTCTTTAATGT	0.318												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD 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	0.393			Mis		gliobastoma							
PANX2	56666	broad.mit.edu	37	22	50615879	50615879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr22:50615879C>A	uc003bjn.4	+	1	738	c.738C>A	c.(736-738)tgC>tgA	p.C246*	PANX2_uc003bjp.4_Nonsense_Mutation_p.C112*|PANX2_uc003bjo.4_Nonsense_Mutation_p.C246*	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	246					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCTACCTGTGCACCTACTACG	0.706												
ROBO1	6091	broad.mit.edu	37	3	78656067	78656070	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:78656067_78656070delTCTG	uc003dqe.2	-	28	4765_4768	c.4557_4560delCAGA	c.(4555-4560)gacagafs	p.D1519fs	ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1519					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTCTGATGATCTGTCTGTTCTTG	0.485												
POLQ	10721	broad.mit.edu	37	3	121230744	121230744	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:121230744G>C	uc003eee.4	-	9	1730	c.1601C>G	c.(1600-1602)gCt>gGt	p.A534G		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	534	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCAGAATAGCTCGTATCAT	0.358								DNA polymerases (catalytic subunits)				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
EIF4G1	1981	broad.mit.edu	37	3	184052651	184052651	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:184052651C>G	uc003fnp.3	+	32	5026	c.4755C>G	c.(4753-4755)ttC>ttG	p.F1585L	EIF4G1_uc010hxx.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnt.3_Missense_Mutation_p.F1296L|EIF4G1_uc010hxy.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnq.3_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.3_Missense_Mutation_p.F1421L|EIF4G1_uc003fns.3_Missense_Mutation_p.F1545L|EIF4G1_uc003fnv.4_Missense_Mutation_p.F1586L|EIF4G1_uc003fnw.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnx.3_Missense_Mutation_p.F1390L|FAM131A_uc003foc.3_5'Flank|FAM131A_uc003fod.2_5'Flank|FAM131A_uc003foe.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1585	EIF4A-binding.|Necessary but not sufficient for MKNK1- binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACAGCCTTCTTCAAGTGGC	0.607												
SEL1L3	23231	broad.mit.edu	37	4	25819779	25819779	+	Silent	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:25819779C>T	uc003gru.4	-	8	1697	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	515						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATCCATCTCCAGCAATGCCT	0.537												
WDR19	57728	broad.mit.edu	37	4	39218764	39218764	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:39218764A>T	uc003gtv.3	+	12	1414	c.1260A>T	c.(1258-1260)aaA>aaT	p.K420N	WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.2_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	420					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CTGTGAAAAAATTGAAAGATA	0.343												
ZAR1	326340	broad.mit.edu	37	4	48494815	48494815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:48494815C>G	uc003gyd.3	+	1	996	c.996C>G	c.(994-996)tgC>tgG	p.C332W		NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN	Homo sapiens zygote arrest 1 (ZAR1), mRNA.	332					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						ATTACCACTGCAAGGACTGCA	0.418												
POLR2B	5431	broad.mit.edu	37	4	57890238	57890238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:57890238G>A	uc003hcl.1	+	20	2967	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	975					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCCCCTCTCGTATGACTATT	0.378												
WWC2	80014	broad.mit.edu	37	4	184210574	184210574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:184210574delC	uc010irx.3	+	20	3352	c.3170delC	c.(3169-3171)acafs	p.T1057fs	WWC2_uc003ivk.4_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.4_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.3_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.4_Frame_Shift_Del_p.T185fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1057										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTTAGAAGAACAACACAGGAA	0.537												
MARCH6	10299	broad.mit.edu	37	5	10387160	10387160	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:10387160C>G	uc003jet.1	+	4	572	c.389C>G	c.(388-390)cCa>cGa	p.P130R	MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	130					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGACGCTGCCATTAGATATG	0.423												
ACOT12	134526	broad.mit.edu	37	5	80643615	80643615	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:80643615T>C	uc003khl.4	-	5	686	c.631A>G	c.(631-633)Aca>Gca	p.T211A	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	211	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTAGCCACTGTCTCCATCCAC	0.498												
STARD4	134429	broad.mit.edu	37	5	110842033	110842033	+	Silent	SNP	T	T	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:110842033T>G	uc003kph.1	-	2	234	c.150A>C	c.(148-150)ggA>ggC	p.G50G	STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_Non-coding_Transcript|STARD4_uc003kpj.2_Silent_p.G50G	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	50	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTTACAGATATCCATTAAATT	0.303												
SOX4	6659	broad.mit.edu	37	6	21595085	21595085	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:21595085C>T	uc003ndi.3	+	0	1114	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	107					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACAAGATCCCTTTCATTCGA	0.602												
VARS2	57176	broad.mit.edu	37	6	30893483	30893483	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:30893483A>G	uc011dmz.2	+	27	3119	c.3038A>G	c.(3037-3039)tAc>tGc	p.Y1013C	VARS2_uc003nsc.2_Missense_Mutation_p.Y983C|VARS2_uc011dmx.2_Missense_Mutation_p.Y983C|VARS2_uc011dmy.2_Missense_Mutation_p.Y843C|VARS2_uc011dna.2_Missense_Mutation_p.Y981C|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.Y421C|VARS2_uc010jsg.2_Missense_Mutation_p.Y355C|VARS2_uc010jsh.2_Missense_Mutation_p.Y127C	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	983					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCAAGTCTACATGGAGCTG	0.647												
PHF1	5252	broad.mit.edu	37	6	33382595	33382595	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:33382595A>G	uc003oeh.3	+	10	1274	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.G346G|PHF1_uc010jux.3_Silent_p.G146G	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	346					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGAGATGGAGCACTCACCA	0.552											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LMBRD1	55788	broad.mit.edu	37	6	70411840	70411840	+	Silent	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:70411840G>C	uc003pfa.3	-	9	1197	c.921C>G	c.(919-921)gtC>gtG	p.V307V	LMBRD1_uc003pez.3_Silent_p.V234V|LMBRD1_uc010kal.3_Silent_p.V234V|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	307					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATATTCCCCAGACGATCTAAA	0.269												
SYNE1	23345	broad.mit.edu	37	6	152737569	152737569	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:152737569A>G	uc021zhb.1	-	38	6226	c.6003T>C	c.(6001-6003)acT>acC	p.T2001T	SYNE1_uc003qot.4_Silent_p.T2008T|SYNE1_uc003qou.4_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2001					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTTTGTCAGTCCTTTCTT	0.448										HNSCC(10;0.0054)		
CTTNBP2	83992	broad.mit.edu	37	7	117431218	117431218	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr7:117431218G>A	uc003vjf.3	-	3	2124	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	678										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCACCTGGTCTACAGGAT	0.468												
XKR9	389668	broad.mit.edu	37	8	71593354	71593354	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:71593354G>T	uc003xyq.3	+	2	595	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Missense_Mutation_p.D21Y	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	21						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTACGTAACTGATTTAATTGT	0.318												
EFR3A	23167	broad.mit.edu	37	8	132966108	132966108	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:132966108A>G	uc003yte.3	+	5	736	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	178						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGGTTCGCAAAACAGTCAA	0.353												
FBXO10	26267	broad.mit.edu	37	9	37522884	37522884	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:37522884T>C	uc004aac.3	-	6	1996	c.1916A>G	c.(1915-1917)tAt>tGt	p.Y639C	FBXO10_uc004aab.3_Missense_Mutation_p.Y623C|FBXO10_uc004aad.3_Missense_Mutation_p.Y173C	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	623						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATCTGAATAGCCAAAGCA	0.542												
SPATA31C2	645961	broad.mit.edu	37	9	90744952	90744952	+	Silent	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:90744952C>T	uc011lti.2	-	3	3029	c.3000G>A	c.(2998-3000)aaG>aaA	p.K1000K	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	1000																	GAGGCTGTTTCTTTGATGGCA	0.438												
OR13C8	138802	broad.mit.edu	37	9	107332296	107332296	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:107332296T>C	uc011lvo.2	+	0	848	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCTCCCTTTTCTATGGAGTG	0.408												
GEMIN8	54960	broad.mit.edu	37	X	14027172	14027172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:14027172G>A	uc004cwb.3	-	4	932	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GEMIN8_uc004cwc.3_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.3_Missense_Mutation_p.R197C	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	197					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TCGGCCTGGCGCCGCTCACCA	0.612												
ZNF645	158506	broad.mit.edu	37	X	22292090	22292090	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:22292090A>T	uc004dai.2	+	0	1061	c.982A>T	c.(982-984)Att>Ttt	p.I328F		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	328	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGATATATTATTGTAAAGGT	0.438												
CXorf22	170063	broad.mit.edu	37	X	35985840	35985840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:35985840C>T	uc004ddj.3	+	9	1771	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	569										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						AGCCATGACACGCACTCACAA	0.453												
EFHC2	80258	broad.mit.edu	37	X	44037748	44037748	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:44037748C>A	uc004dgb.4	-	11	1903	c.1814G>T	c.(1813-1815)cGt>cTt	p.R605L	EFHC2_uc022bvg.1_Missense_Mutation_p.R183L	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	605							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACGGTAGTGACGTGCAATGGT	0.373												
ZNF674	641339	broad.mit.edu	37	X	46388335	46388335	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:46388335T>C	uc004dgr.3	-	3	252	c.25A>G	c.(25-27)Acc>Gcc	p.T9A	ZNF674_uc011mlg.2_Missense_Mutation_p.T9A|ZNF674_uc022bvl.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TCCTTGAAGGTCAATGATTCC	0.552												
CCDC120	90060	broad.mit.edu	37	X	48920041	48920041	+	Missense_Mutation	SNP	G	G	A	rs147084360		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:48920041G>A	uc011mmr.2	+	3	384	c.92G>A	c.(91-93)cGt>cAt	p.R31H	CCDC120_uc010nik.3_Missense_Mutation_p.R31H|CCDC120_uc011mmq.2_Missense_Mutation_p.R19H|CCDC120_uc004dmf.3_Missense_Mutation_p.R31H|CCDC120_uc010nil.3_Missense_Mutation_p.R31H|CCDC120_uc011mms.2_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	31							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AAGTCAGAGCGTCTGCGGGGG	0.647												
LAS1L	81887	broad.mit.edu	37	X	64737941	64737941	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:64737941G>T	uc004dwa.2	-	11	1944	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	LAS1L_uc004dwc.2_Missense_Mutation_p.P601H|LAS1L_uc004dwd.2_Missense_Mutation_p.P559H|LAS1L_uc004dvz.2_Missense_Mutation_p.P131H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	618						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCGGCAGTGGGGGACTCTTG	0.517												
STARD8	9754	broad.mit.edu	37	X	67943638	67943638	+	Silent	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:67943638C>G	uc004dxb.3	+	12	3184	c.2970C>G	c.(2968-2970)gtC>gtG	p.V990V	STARD8_uc004dxa.3_Silent_p.V910V|STARD8_uc004dxc.4_Silent_p.V910V	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	910	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCACTATGTCACCGACAGCA	0.652												
ZMYM3	9203	broad.mit.edu	37	X	70469372	70469372	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:70469372A>G	uc004dzh.2	-	6	1588	c.1409T>C	c.(1408-1410)cTc>cCc	p.L470P	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.2_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.2_Missense_Mutation_p.L201P|ZMYM3_uc004dzl.4_Missense_Mutation_p.L470P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	470					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGTGGAAGAGGAGCTCAGG	0.562												
ATRX	546	broad.mit.edu	37	X	76778818	76778818	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:76778818T>C	uc004ecp.4	-	30	6993	c.6761A>G	c.(6760-6762)cAt>cGt	p.H2254R	ATRX_uc004ecq.4_Missense_Mutation_p.H2216R|ATRX_uc004eco.4_Missense_Mutation_p.H2039R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2254					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.H2254R(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAGAGAATCATGTTCATGGTA	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
HDX	139324	broad.mit.edu	37	X	83724095	83724095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:83724095delC	uc011mqv.2	-	3	883	c.636delG	c.(634-636)aagfs	p.K212fs	HDX_uc004eel.2_Frame_Shift_Del_p.K154fs|HDX_uc004eek.2_Frame_Shift_Del_p.K212fs	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACACAGAAGGCTTTTGAGGTA	0.418												
COL4A5	1287	broad.mit.edu	37	X	107840792	107840792	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:107840792A>G	uc022ccg.1	+	23	1975	c.1773A>G	c.(1771-1773)ggA>ggG	p.G591G	COL4A5_uc004enz.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	591	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCCGAAAGGAGAGCCTGTGA	0.463									Alport syndrome with Diffuse Leiomyomatosis			
GUCY2F	2986	broad.mit.edu	37	X	108708484	108708484	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:108708484C>T	uc022cch.1	-	1	1004	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.A307T	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	307					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAGGCTTCCCGGAGC	0.488												
