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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CACNA1G	8913	broad.mit.edu	37	17	48653145	48653145	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:48653145G>A	uc002irk.1	+	7	1754	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R461Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R461Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R461Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R374Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R374Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R374Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R374Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R374Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R374Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R374Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R374Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R374Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R374Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R374Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R374Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	461					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGGTGTGCGGGTTGGGCTG	0.677000														23			8		0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1425803	1425803	+	Splice_Site	SNP	C	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:1425803C>T	uc001afv.3	+	14	1606	c.1505_splice	c.e14+1	p.R502_splice	ATAD3B_uc021oeq.1_Splice_Site_p.R132_splice|ATAD3B_uc001afx.3_Splice_Site_p.R456_splice	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	502							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGAAGGAAAACGGTGAGTGTC	0.617000														21			52		0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863781	74863781	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr4:74863781G>T	uc003hhk.3	-	2	392	c.274C>A	c.(274-276)Ctt>Att	p.L92I		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	92					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TCTGGATCAAGACAAATTTCC	0.428000														159			18		6.94344e-10	6.94344e-10	1	1	0
OR8H2	390151	broad.mit.edu	37	11	55872537	55872537	+	Missense_Mutation	SNP	A	G	G	rs61746549	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr11:55872537A>G	uc010riy.2	+	0	19	c.19A>G	c.(19-21)Aac>Gac	p.N7D		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N7D(2)|p.N6N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TAGAAGGAATAACACAAATGT	0.438000										HNSCC(53;0.14)				160			5		0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824239	55824239	+	Silent	SNP	C	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:55824239C>T	uc010esw.1	-	7	863	c.690G>A	c.(688-690)ccG>ccA	p.P230P	TMEM150B_uc010yfu.1_Silent_p.P230P|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	230						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						ACAGCTGGACCGGCAGGGAGA	0.667000														39			29		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40944268	40944268	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:40944268C>T	uc010bbs.1	+	21	6619	c.6458C>T	c.(6457-6459)aCg>aTg	p.T2153M	CASC5_uc010bbt.1_Missense_Mutation_p.T2127M	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2153	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTTTATGACACGATACAACTC	0.378000														50			29		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195509308	195509308	+	Missense_Mutation	SNP	G	A	A	rs71291868		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:195509308G>A	uc021xjp.1	-	1	9299	c.9143C>T	c.(9142-9144)tCa>tTa	p.S3048L	MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	796					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGTGTC	0.607000														65			5		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82841438	82841438	+	Silent	SNP	G	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr5:82841438G>T	uc003kii.3	+	8	9704	c.9348G>T	c.(9346-9348)gtG>gtT	p.V3116V	VCAN_uc003kij.3_Silent_p.V2129V|VCAN_uc010jau.2_Silent_p.V1362V|VCAN_uc003kik.3_Silent_p.V375V|VCAN_uc003kil.3_Silent_p.V1780V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3116	EGF-like 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCACCTGTGTGCCAGGATACA	0.463000														87			50		4.25531e-23	5.05319e-23	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80458056	80458056	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:80458056G>A	uc011kgw.2	-	2	242	c.163C>T	c.(163-165)Cga>Tga	p.R55*	SEMA3C_uc003uhj.3_Nonsense_Mutation_p.R37*|SEMA3C_uc011kgx.1_Intron	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	37	Sema.				immune response|response to drug	membrane	receptor activity	p.R37*(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTGGTTTCTCGAAGTTCTGAA	0.348000														57			5		0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99084964	99084964	+	Silent	SNP	G	A	A	rs148718204	byFrequency	TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr7:99084964G>A	uc003uqq.1	+	4	1350	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	ZNF789_uc010lfw.1_Silent_p.T282T|ZNF789_uc003uqr.1_Silent_p.T319T	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	Homo sapiens zinc finger protein 789 (ZNF789), transcript variant 1, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTGGGAAAACGTTTAGTTTTA	0.403000														98			14		0	0	1	0	0
C19orf70	125988	broad.mit.edu	37	19	5679701	5679701	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr19:5679701C>A	uc002mch.1	-	1	517	c.103G>T	c.(103-105)Gac>Tac	p.D35Y	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	35							protein binding			endometrium(1)|lung(1)	2						TGGCTCTTGTCGCTGGGCCCC	0.647000														25			19		5.26018e-13	5.55241e-13	1	1	0
AFF2	2334	broad.mit.edu	37	X	147924508	147924508	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chrX:147924508C>T	uc004fcp.3	+	5	1671	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	AFF2_uc004fco.3_Missense_Mutation_p.P365S|AFF2_uc004fcq.3_Missense_Mutation_p.P394S|AFF2_uc004fcr.3_Missense_Mutation_p.P365S|AFF2_uc011mxb.2_Missense_Mutation_p.P369S|AFF2_uc004fcs.3_Missense_Mutation_p.P365S|AFF2_uc011mxc.2_Missense_Mutation_p.P39S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	398					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P398L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCATCTGACCCCAGGATTCAC	0.348000														197			30		0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120417415	120417415	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:120417415T>C	uc003edx.3	-	4	419	c.389A>G	c.(388-390)tAt>tGt	p.Y130C		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	130	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTCTTGATCATAATCCCTGTG	0.338000														141			4		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73959889	73959889	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr4:73959889C>A	uc003hgp.3	-	27	5351	c.5234G>T	c.(5233-5235)gGc>gTc	p.G1745V	ANKRD17_uc003hgo.3_Missense_Mutation_p.G1632V|ANKRD17_uc003hgq.3_Missense_Mutation_p.G1494V|ANKRD17_uc003hgr.3_Missense_Mutation_p.G1744V	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1745	KH.				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)			GATATTACAGCCTCCTCTTCC	0.348000														103			24		8.58068e-18	9.59017e-18	1	1	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr17:7577114C>T	uc002gim.2	-	7	1018	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in 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.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552000		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)				5			19		0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179336311	179336311	+	Splice_Site	SNP	T	C	C			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr3:179336311T>C	uc003fkc.3	+	5	478	c.449_splice	c.e5+2	p.R150_splice	NDUFB5_uc021xhu.1_Intron|NDUFB5_uc003fke.3_Splice_Site_p.R98_splice|NDUFB5_uc003fkd.3_Splice_Site	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	150					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TGAATTACGGTAGGAAAAACG	0.373000														23			15		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572090	127572090	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr9:127572090G>A	uc004bov.3	+	7	1471	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	OLFML2A_uc004bow.3_Missense_Mutation_p.R239H	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	453	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCTGCAGGCCGCTGGAGTAAC	0.617000														42			3		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22839532	22839532	+	Silent	SNP	C	T	T			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr1:22839532C>T	uc001bft.2	+	12	3088	c.2577C>T	c.(2575-2577)acC>acT	p.T859T	ZBTB40_uc001bfu.2_Silent_p.T859T|ZBTB40_uc009vqi.1_Silent_p.T747T	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	859					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCCTTCACACCGGGGACCGCC	0.572000														25			12		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64966530	64966530	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr15:64966530G>A	uc002ann.3	+	3	1477	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	493						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522000														46			26		0	0	1	0	0
TAF1D	79101	broad.mit.edu	37	11	93471453	93471453	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr11:93471453delT	uc001ped.3	-	2	524	c.281delA	c.(280-282)aagfs	p.K94fs	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348													---	123	---	---	7	---					
CTU2	348180	broad.mit.edu	37	16	88781785	88781785	+	Splice_Site	DEL	A	-	-	rs113700874		TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr16:88781785delA	uc010chz.3	+	15	1936	c.1888_splice	c.e15+1		CTU2_uc002flm.3_Splice_Site|CTU2_uc002fln.3_Splice_Site|CTU2_uc010cia.3_Splice_Site|PIEZO1_uc002flo.4_3'UTR|PIEZO1_uc002flp.4_3'UTR|PIEZO1_uc002flq.4_3'UTR|PIEZO1_uc010cib.3_3'UTR|PIEZO1_uc010vpb.2_3'UTR	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						ttttttaattaaaaaaaaaaC	0.547													---	6	---	---	3	---					
RNMT	8731	broad.mit.edu	37	18	13746253	13746253	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8338-01A-11D-2310-10	TCGA-KL-8338-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9966607-f842-41ec-8d4a-dff22bec65f6	511dfe93-0a8e-4ff1-8724-6f87ec952e5c	g.chr18:13746253delA	uc002ksk.1	+	7	1241	c.1174delA	c.(1174-1176)aaafs	p.K392fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.K392fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.K392fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.K392fs|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	392					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity	p.T394fs*19(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ACTAGTCTACAAAAAAACATT	0.308													---	454	---	---	7	---					
