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
ZNF71	58491	broad.mit.edu	37	19	57132875	57132875	+	Missense_Mutation	SNP	G	G	A	rs141566979	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:57132875G>A	uc002qnm.4	+	2	458	c.220G>A	c.(220-222)Gca>Aca	p.A74T	ZNF71_uc021vcg.1_Missense_Mutation_p.A74T	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A74T(2)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCAGTACCCGCATGTCATGA	0.617000													11	68					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369610	56369610	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:56369610C>T	uc002qmd.4	+	2	1273	c.851C>T	c.(850-852)cCg>cTg	p.P284L	NLRP4_uc002qmf.3_Missense_Mutation_p.P209L|NLRP4_uc010etf.3_Missense_Mutation_p.P115L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	284	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCGTGTGCCCGAAGGAGCTC	0.537000													29	142					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165970378	165970378	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:165970378T>C	uc002ucx.3	-	19	4109	c.3617A>G	c.(3616-3618)aAc>aGc	p.N1206S	SCN3A_uc002ucy.3_Missense_Mutation_p.N1157S|SCN3A_uc002ucz.3_Missense_Mutation_p.N1157S|SCN3A_uc002uda.1_Missense_Mutation_p.N1026S|SCN3A_uc002udb.1_Missense_Mutation_p.N1026S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1206						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCAAACCAGTTGTGCTCAAC	0.378000													40	135					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957066	73957066	+	Silent	SNP	T	T	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:73957066T>A	uc003hgp.3	-	28	6396	c.6279A>T	c.(6277-6279)ccA>ccT	p.P2093P	ANKRD17_uc003hgo.3_Silent_p.P1980P|ANKRD17_uc003hgq.3_Silent_p.P1842P|ANKRD17_uc003hgr.3_Silent_p.P2092P	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2093	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCTGTTTGGAGGTCTAG	0.473000													48	141					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557893	10557893	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr8:10557893C>T	uc003wtd.1	+	3	826	c.797C>T	c.(796-798)cCg>cTg	p.P266L	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	266										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCCCTATCCCGCCCCCCATC	0.587000													19	19					0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170374777	170374777	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:170374777G>A	uc002ueu.1	+	3	1531	c.1454G>A	c.(1453-1455)cGt>cAt	p.R485H	KBTBD10_uc010zdh.1_Missense_Mutation_p.R423H	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	485					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AAAATTCCTCGTTCCATGTTT	0.388000													9	77					0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11470398	11470398	+	Silent	SNP	G	G	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:11470398G>T	uc001mjo.2	-	1	742	c.321C>A	c.(319-321)ccC>ccA	p.P107P		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	107						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GCCGGCCTTCGGGGCTGAGCT	0.647000													3	20					1	1	1	1	0
C9orf96	169436	broad.mit.edu	37	9	136256485	136256485	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:136256485A>T	uc004cdk.3	+	6	557	c.496A>T	c.(496-498)Atc>Ttc	p.I166F	C9orf96_uc004cdl.3_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	166	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATCATCCTCATCAGCAGTGA	0.552000													78	316					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234679	18234679	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:18234679C>T	uc004cyj.4	-	1	354	c.200G>A	c.(199-201)gGc>gAc	p.G67D	BEND2_uc010nfb.2_Missense_Mutation_p.G67D	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	67								p.G66V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCCATCATTGCCGCCTGGAAA	0.408000													38	6					0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	35288047	35288047	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr21:35288047G>A	uc002ytl.3	-	0	112	c.21C>T	c.(19-21)tcC>tcT	p.S7S	DONSON_uc002ytm.1_5'Flank	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GGGAGAGCCCGGACACTGCTG	0.652000													5	4					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940083	76940083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:76940083C>T	uc004ecp.4	-	8	897	c.665G>A	c.(664-666)tGg>tAg	p.W222*	ATRX_uc004ecq.4_Nonsense_Mutation_p.W184*|ATRX_uc004eco.4_Nonsense_Mutation_p.W7*|ATRX_uc004ecr.2_Nonsense_Mutation_p.W183*|ATRX_uc010nlx.1_Nonsense_Mutation_p.W222*|ATRX_uc010nly.1_Nonsense_Mutation_p.W167*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	222	ADD.		W -> S (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		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)	TTCCGCACACCACCTGAAATG	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						81	13					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53609147	53609147	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:53609147G>A	uc001scf.3	-	4	897	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RARG_uc001scd.3_Silent_p.N124N|RARG_uc010sob.2_Silent_p.N113N|RARG_uc001scg.3_Silent_p.N63N|RARG_uc010soc.2_Silent_p.N14N|RARG_uc001sce.3_Silent_p.N135N|RARG_uc010sod.2_Silent_p.N172N	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	135					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGTCACCTTGTTGATGATAC	0.547000													27	113					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	85					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139247539	139247539	+	Splice_Site	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:139247539G>C	uc003qii.3	-	10	1917	c.1338_splice	c.e10+1	p.P446_splice	REPS1_uc003qig.4_Intron|REPS1_uc011edr.2_Splice_Site_p.P446_splice|REPS1_uc003qij.3_Intron|REPS1_uc003qik.3_Intron	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	446						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTGACTTACAGGATCAGCTGG	0.393000													12	12					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427768	37427768	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37427768C>T	uc001uvw.3	-	5	1391	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SMAD9_uc001uvx.3_Missense_Mutation_p.V313M|SMAD9_uc010tep.2_Missense_Mutation_p.V143M	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	350	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGTCACTCACGCACTCGGCA	0.562000													6	43					0	0	1	0	0
FAM174A	345757	broad.mit.edu	37	5	99897847	99897847	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:99897847A>T	uc003knj.1	+	1	635	c.524A>T	c.(523-525)gAt>gTt	p.D175V		NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	Homo sapiens family with sequence similarity 174, member A (FAM174A), mRNA.	175						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAACAGGATGATGAGGATGAT	0.383000													29	61					0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606491	84606491	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:84606491C>G	uc004amn.3	+	3	1153	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	369						integral to membrane		p.S368S(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TCTTTTTCCTCTAATTTTGTG	0.483000													15	69					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757943	8757943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:8757943G>A	uc001qur.2	-	2	374	c.295C>T	c.(295-297)Cga>Tga	p.R99*	AICDA_uc001qup.1_Nonsense_Mutation_p.R94*|AICDA_uc001quq.1_Nonsense_Mutation_p.R94*|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	99					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGGTTCCCTCGCAGAAAGTCG	0.667000													15	56					0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927406	28927406	+	RNA	SNP	G	G	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:28927406G>T	uc003jgz.1	+	0		c.430G>T								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		TCATGATAACGTGAACAGAAG	0.423000													18	47					1.02788e-11	1.04216e-11	1	1	0
TMEM132A	54972	broad.mit.edu	37	11	60703701	60703701	+	Silent	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:60703701A>T	uc001nqi.3	+	10	2590	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A	TMEM132A_uc001nqj.3_Silent_p.A798A	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	798	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane		p.V798G(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCAGGTGGCAGGCAGTGTCG	0.662000													11	60					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106974602	106974602	+	RNA	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr14:106974602C>T	uc021ser.1	-	255		c.9796G>A								Parts of antibodies, mostly variable regions.																		GATGGTGAATCGGCCCATCAC	0.512000													13	81					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068158	27068158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:27068158C>T	uc002hcp.3	+	12	1795	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	599						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAATACTCGCCGAGGCAGTCG	0.572000													24	109					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121769068	121769068	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:121769068G>T	uc003pyr.3	+	1	1325	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L	GJA1_uc011ebo.1_Missense_Mutation_p.V260L|GJA1_uc011ebp.1_Missense_Mutation_p.V147L|GJA1_uc021zel.1_Missense_Mutation_p.V359L	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	359					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ACTAGCCATTGTGGACCAGCG	0.493000													29	119					4.65686e-17	4.92683e-17	1	1	0
RSPH9	221421	broad.mit.edu	37	6	43612865	43612865	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:43612865G>A	uc003ovx.2	+	0	99	c.30G>A	c.(28-30)ctG>ctA	p.L10L	RSPH9_uc003ovw.2_Silent_p.L10L	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	10					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTGTCTCTGGAGCTGGCGT	0.657000									Kartagener syndrome				7	53					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974745	16974745	+	RNA	SNP	G	G	A	rs28526603	by1000genomes	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:16974745G>A	uc010och.2	+	6		c.1205G>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.																		CCTGGAACCGGAGGGCCGGGG	0.711000													3	35					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936449	21936449	+	RNA	SNP	T	T	C	rs7178942	by1000genomes	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:21936449T>C	uc010tzj.1	-	0		c.4291A>G								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GCTTCTTTCATTCAGGTTATG	0.333000													6	46					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641322	29641322	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:29641322T>A	uc011dlw.2	-	3	717	c.566A>T	c.(565-567)tAc>tTc	p.Y189F		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	105					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCTATAGAGGTAGGAGCGCCT	0.542000													24	95					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011230	73011230	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr7:73011230C>G	uc003tyn.1	-	9	1684	c.1636G>C	c.(1636-1638)Gta>Cta	p.V546L	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.V546L|MLXIPL_uc003tym.1_Missense_Mutation_p.V546L|MLXIPL_uc003tyl.1_Missense_Mutation_p.V546L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.V453L|MLXIPL_uc003tyq.1_Missense_Mutation_p.V288L	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	546					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L545P(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCTGGATACAAGTGGTGGC	0.672000													2	23					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015366	37015366	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37015366T>C	uc001uvr.4	+	6	1560	c.1210T>C	c.(1210-1212)Tgg>Cgg	p.W404R	CCNA1_uc010teo.2_Missense_Mutation_p.W360R|CCNA1_uc010abq.3_Missense_Mutation_p.W360R|CCNA1_uc010abp.3_Missense_Mutation_p.W360R|CCNA1_uc001uvs.4_Missense_Mutation_p.W403R|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	404					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAAGCACTTTTGGGTAAGATT	0.398000													39	73					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68480850	68480850	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:68480850G>A	uc001ooc.3	-	7	1186	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	349					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCTGGAAAGCTTCTGGATT	0.468000													55	261					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802982	24802982	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802982G>C	uc002dmm.3	+	5	3133	c.3019G>C	c.(3019-3021)Gct>Cct	p.A1007P	TNRC6A_uc010bxs.3_Missense_Mutation_p.A754P|TNRC6A_uc010vcc.1_Missense_Mutation_p.A754P|TNRC6A_uc002dmn.3_Missense_Mutation_p.A754P|TNRC6A_uc002dmo.3_Missense_Mutation_p.A754P	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1007	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGAACTTCAGCTTGGGGAGA	0.468000													24	55					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45887455	45887455	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:45887455C>T	uc001cns.1	-	2	689	c.286G>A	c.(286-288)Gca>Aca	p.A96T	TESK2_uc009vxr.1_Missense_Mutation_p.A96T|TESK2_uc010olo.1_Missense_Mutation_p.A13T|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.A96T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	96	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGCATGTTTGCCCGGTTACTG	0.423000													71	95					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95826019	95826019	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:95826019G>A	uc001pfw.1	-	1	2461	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	392					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTGGCCATGGAGAATGCGG	0.597000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								22	11					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928738	98928738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:98928738C>T	uc002syo.3	+	27	4075	c.3811C>T	c.(3811-3813)Cga>Tga	p.R1271*	VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1271										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCTCCACCTCGAGCAGCCCT	0.607000													21	76					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907133	101907133	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:101907133A>G	uc004azc.3	+	5	1169	c.1093A>G	c.(1093-1095)Att>Gtt	p.I365V	TGFBR1_uc004azd.3_Missense_Mutation_p.I288V|TGFBR1_uc004aze.3_Missense_Mutation_p.I369V|TGFBR1_uc011lvc.2_Missense_Mutation_p.I296V	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	365	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CACAGATACCATTGATATTGC	0.348000													5	94					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													4	40					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	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	36					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12244606	12244606	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:12244606G>A	uc002mtg.2	-	7	977	c.395C>T	c.(394-396)tCa>tTa	p.S132L	ZNF20_uc002mte.2_Missense_Mutation_p.S97L|ZNF20_uc002mtf.2_Missense_Mutation_p.S132L|ZNF20_uc021upm.1_Missense_Mutation_p.S129L	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						ATACTCAGATGACTTGTGTCC	0.408000													59	231					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647382	81647382	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:81647382C>T	uc001szl.1	+	14	2019	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	ACSS3_uc001szm.1_Missense_Mutation_p.P642L|ACSS3_uc001szn.1_Missense_Mutation_p.P325L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	643						mitochondrion	ATP binding|acetate-CoA ligase activity	p.L642L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAACAGCTACCCAAAACCAGA	0.428000													21	108					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39328114	39328114	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:39328114G>A	uc021uuh.1	-	11	1632	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	HNRNPL_uc002ojj.1_Missense_Mutation_p.R197C|HNRNPL_uc010ege.1_Missense_Mutation_p.R89C|HNRNPL_uc002ojk.3_Missense_Mutation_p.R197C|HNRNPL_uc002ojl.3_Missense_Mutation_p.R197C|HNRNPL_uc021uui.1_Missense_Mutation_p.R408C|HNRNPL_uc002ojo.1_Missense_Mutation_p.R119C	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	541					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGAGCTGCGCTCACCTGAT	0.512000													42	78					0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112674788	112674788	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:112674788G>A	uc021reb.1	-	34	5399	c.5003C>T	c.(5002-5004)gCg>gTg	p.A1668V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ATCCTGGAGCGCGTCATTCCC	0.572000													6	26					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101447398	101447398	+	Missense_Mutation	SNP	G	G	A	rs145630728	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:101447398G>A	uc002bwn.4	+	10	1410	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	ALDH1A3_uc010bpb.3_Missense_Mutation_p.D329N|BC073817_uc002bwo.1_Intron|AF198444_uc021sxs.1_5'Flank	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	436					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	p.T435T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GAATAGCACCGACTATGGACT	0.438000													68	40					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371899	76371899	+	Silent	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:76371899G>C	uc001oxq.4	-	2	981	c.738C>G	c.(736-738)acC>acG	p.T246T	LRRC32_uc001oxr.4_Silent_p.T246T|LRRC32_uc010rsf.2_Silent_p.T246T	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	246						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTCAAGCCAGGTGAGCTGGA	0.617000													19	90					0	0	1	0	0
SYT14L	401135	broad.mit.edu	37	4	68928629	68928629	+	Silent	SNP	T	T	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:68928629T>G	uc021xou.1	-	0	359	c.198A>C	c.(196-198)ctA>ctC	p.L66L	LOC550112_uc003hdl.4_Non-coding_Transcript|TMPRSS11F_uc003hdt.1_Intron|BC041902_uc011cak.2_Non-coding_Transcript|SYT14L_uc010ihn.3_Non-coding_Transcript					RecName: Full=Putative synaptotagmin-14-like protein; AltName: Full=Synaptotagmin XIV-derived protein; AltName: Full=Synaptotagmin XIV-like protein;											endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(2)	11						CTTCTGCTGATAGTCTCCCAT	0.423000													82	92					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145171	56145171	+	Missense_Mutation	SNP	T	T	C	rs55849640	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:56145171T>C	uc002rzi.3	-	4	647	c.146A>G	c.(145-147)gAc>gGc	p.D49G	EFEMP1_uc002rzj.3_Missense_Mutation_p.D49G|EFEMP1_uc010ypc.2_5'UTR	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	49	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGACAATGTCACATTCATC	0.373000													32	76					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92268745	92268745	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr14:92268745C>T	uc001xzu.4	-	3	513	c.322G>A	c.(322-324)Gga>Aga	p.G108R	TC2N_uc001xzt.4_Missense_Mutation_p.G108R|TC2N_uc010auc.3_Missense_Mutation_p.G108R|TC2N_uc001xzv.4_Missense_Mutation_p.G108R	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	108						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTCGATCTCCAAAAGATGCT	0.403000													15	61					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6186737	6186737	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:6186737G>A	uc001amb.2	-	25	4084	c.3973C>T	c.(3973-3975)Cgg>Tgg	p.R1325W	CHD5_uc001alz.2_Missense_Mutation_p.R182W|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1325					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1324fs*78(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TAGTGGTGCCGCAGCAGCTTC	0.627000													15	57					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136683671	136683671	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:136683671C>A	uc011edg.2	-	10	1782	c.1533G>T	c.(1531-1533)agG>agT	p.R511S	MAP7_uc011edf.2_Missense_Mutation_p.R466S|MAP7_uc010kgu.3_Missense_Mutation_p.R503S|MAP7_uc011edh.2_Missense_Mutation_p.R466S|MAP7_uc010kgv.3_Missense_Mutation_p.R503S|MAP7_uc010kgs.3_Missense_Mutation_p.R335S|MAP7_uc011edi.2_Missense_Mutation_p.R335S|MAP7_uc010kgq.2_Missense_Mutation_p.R387S|MAP7_uc003qgz.3_Missense_Mutation_p.R481S|MAP7_uc003qha.2_Missense_Mutation_p.R444S	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	481					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.Q510H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAGCTAGAAGCCTTGTGGCCT	0.567000													17	57					3.51602e-12	3.61506e-12	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24802981	24802981	+	Silent	SNP	A	A	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802981A>C	uc002dmm.3	+	5	3132	c.3018A>C	c.(3016-3018)tcA>tcC	p.S1006S	TNRC6A_uc010bxs.3_Silent_p.S753S|TNRC6A_uc010vcc.1_Silent_p.S753S|TNRC6A_uc002dmn.3_Silent_p.S753S|TNRC6A_uc002dmo.3_Silent_p.S753S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1006	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGGAACTTCAGCTTGGGGAG	0.473000													23	57					0	0	1	0	0
C3orf18	51161	broad.mit.edu	37	3	50598380	50598380	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr3:50598380C>A	uc003dar.3	-	4	957	c.376G>T	c.(376-378)Gct>Tct	p.A126S	C3orf18_uc010hlo.3_Missense_Mutation_p.A106S|C3orf18_uc003das.3_Missense_Mutation_p.A126S|C3orf18_uc011bdr.2_Non-coding_Transcript|C3orf18_uc010hlp.3_Intron|C3orf18_uc003dat.3_Missense_Mutation_p.A126S	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	Homo sapiens chromosome 3 open reading frame 18 (C3orf18), transcript variant 1, mRNA.	126						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GAAGTAGCAGCCTGTACAGAG	0.637000													24	56					3.28513e-13	3.42592e-13	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77714188	77714188	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:77714188A>C	uc021rks.1	-	50	7779	c.7512T>G	c.(7510-7512)atT>atG	p.I2504M	MYCBP2_uc010aev.3_Missense_Mutation_p.I1870M	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCTCATCAATAAAAGTGA	0.398000													4	78					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073101	15073101	+	Silent	SNP	G	G	A	rs150916469	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:15073101G>A	uc002naa.1	-	4	655	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SLC1A6_uc010dzu.1_Silent_p.N216N|SLC1A6_uc010xod.1_Silent_p.N152N|SLC1A6_uc002nab.3_Silent_p.N216N|SLC1A6_uc002nac.3_Silent_p.N216N	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	216					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTCAGACCCGTTCTCTGTCC	0.557000													41	139					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	85					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			39	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082521	9082521	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:9082521C>A	uc002mkp.3	-	0	9498	c.9294G>T	c.(9292-9294)caG>caT	p.Q3098H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3099	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAATGGTCTGGCTTGAGG	0.478000													44	248					3.40343e-31	3.65368e-31	1	1	0
DYX1C1	161582	broad.mit.edu	37	15	55742505	55742505	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:55742505C>T	uc002adc.3	-	5	1066	c.698G>A	c.(697-699)cGc>cAc	p.R233H	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Missense_Mutation_p.R233H|DYX1C1_uc002add.3_Missense_Mutation_p.R233H	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	233					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAACAGAGCGAGGAGCAGG	0.378000													32	62					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35231542	35231542	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:35231542C>T	uc001mvu.3	+	12	1981	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.S473L|CD44_uc001mvw.3_Missense_Mutation_p.S267L|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Missense_Mutation_p.S44L|CD44_uc010res.2_Missense_Mutation_p.S80L|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	516	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TTCTCTACATCACATGAAGGC	0.388000													34	135					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854880	53854880	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:53854880A>G	uc010ydv.1	+	3	1069	c.952A>G	c.(952-954)Aag>Gag	p.K318E	ZNF845_uc010ydw.1_Missense_Mutation_p.K318E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGTAATTCATAAGGCAATTCA	0.413000													41	67					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74595916	74595916	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:74595916C>T	uc002skx.3	-	15	2111	c.1793G>A	c.(1792-1794)cGg>cAg	p.R598Q	DCTN1_uc002skv.3_Missense_Mutation_p.R464Q|DCTN1_uc002sku.3_Missense_Mutation_p.R464Q|DCTN1_uc002skw.2_Missense_Mutation_p.R591Q|DCTN1_uc010ffd.3_Missense_Mutation_p.R578Q|DCTN1_uc002sky.3_Missense_Mutation_p.R561Q	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	598					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCCACCTGGCCGAAGGAAGCT	0.532000													17	103					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1426390	1426390	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr20:1426390C>T	uc002wfc.3	-	7	1739	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	NSFL1C_uc021vzq.1_Missense_Mutation_p.E177K|NSFL1C_uc002wfe.3_Missense_Mutation_p.E260K	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	291	UBX.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGCTCTGATTCGTCGATTAAG	0.532000													17	257					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527687	23527687	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:23527687G>A	uc003jgo.3	+	10	2672	c.2490G>A	c.(2488-2490)aaG>aaA	p.K830K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	830					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E829*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGGGAGAAGCCCTATGTCT	0.587000										HNSCC(3;0.000094)			28	95					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303539	11303539	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:11303539C>T	uc002mqm.3	-	1	1296	c.1217G>A	c.(1216-1218)aGc>aAc	p.S406N	KANK2_uc021upe.1_Missense_Mutation_p.S406N|KANK2_uc002mqo.4_Missense_Mutation_p.S406N|KANK2_uc002mqp.1_Missense_Mutation_p.S215N|KANK2_uc002mqq.3_Missense_Mutation_p.S406N	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	406										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTGTGATGCTAATCTTCTT	0.612000													18	88					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25425618	25425618	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:25425618C>T	uc001upr.3	+	23	3270	c.3229C>T	c.(3229-3231)Cct>Tct	p.P1077S	RNF17_uc010tdd.1_Missense_Mutation_p.P936S|RNF17_uc010tde.2_Missense_Mutation_p.P1073S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P1016S|RNF17_uc010aac.3_Missense_Mutation_p.P275S|RNF17_uc010aad.3_Missense_Mutation_p.P129S	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1077					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATGGCCATTACCTGTGAAAAT	0.343000													11	60					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136389572	136389575	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:136389572_136389575delGTAA	uc002tuo.3	+	9	1068	c.698_splice	c.e9+1	p.I233_splice	R3HDM1_uc010fni.3_Splice_Site_p.I231_splice|R3HDM1_uc002tup.3_Splice_Site_p.I177_splice|R3HDM1_uc010zbh.2_Splice_Site_p.I65_splice	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	233							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATACAAGAATGTAAGTGTCAAGAG	0.324													29	106	---	---	---	---					
SPOCK3	50859	broad.mit.edu	37	4	167810286	167810287	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:167810286_167810287delTT	uc011cjq.1	-	4	676_677	c.619_620delAA	c.(619-621)aagfs	p.K207fs	SPOCK3_uc021xuf.1_Frame_Shift_Del_p.K198fs|SPOCK3_uc011cjr.1_Frame_Shift_Del_p.K78fs|SPOCK3_uc003iri.1_Frame_Shift_Del_p.K198fs|SPOCK3_uc011cjs.1_Frame_Shift_Del_p.K147fs|SPOCK3_uc003irj.1_Frame_Shift_Del_p.K195fs|SPOCK3_uc011cjt.1_Frame_Shift_Del_p.K106fs|SPOCK3_uc011cjp.2_Frame_Shift_Del_p.K195fs|SPOCK3_uc011cju.1_Frame_Shift_Del_p.K102fs|SPOCK3_uc011cjv.1_Frame_Shift_Del_p.K100fs|SPOCK3_uc003irk.4_Frame_Shift_Del_p.K195fs|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTACCTCTCTTAACATTTCTG	0.337													33	80	---	---	---	---					
GFPT2	9945	broad.mit.edu	37	5	179744060	179744061	+	Splice_Site	DEL	TG	TG	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:179744060_179744061delTG	uc003mlw.1	-	11	1057	c.959_splice	c.e11-1	p.G320_splice		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	320					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAAGTTACCTGGTCAAATAAA	0.391													27	103	---	---	---	---					
ADAMTS14	140766	broad.mit.edu	37	10	72493665	72493665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr10:72493665delG	uc001jrg.3	+	7	1242	c.1242delG	c.(1240-1242)cagfs	p.Q414fs	ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.Q411fs|ADAMTS14_uc001jri.1_5'Flank	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	411	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G413C(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGACGGTCAGGGGAATGGCT	0.652													19	93	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579694	7579699	+	Splice_Site	DEL	CCTTAC	CCTTAC	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7579694_7579699delCCTTAC	uc002gim.2	-	3	290	c.96_splice	c.e3+1	p.L32_splice	TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.3_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	32	Interaction with HRMT1L2.|Transcription activation (acidic).				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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		cAACCCTTGTCCTTACCAGAACGTTG	0.587		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	46	---	---	---	---					
