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
CCDC74A	90557	broad.mit.edu	37	2	132287226	132287226	+	Missense_Mutation	SNP	A	A	G	rs147307685	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:132287226A>G	ENST00000295171.6	+	2	395	c.257A>G	c.(256-258)cAt>cGt	p.H86R	CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.H86R	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	86										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGATCTCCATTACAAGCTC	0.532000													3	56					0	0	1	0	0
YRDC	79693	broad.mit.edu	37	1	38272777	38272777	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:38272777G>A	ENST00000373044.2	-	2	504	c.500C>T	c.(499-501)aCg>aTg	p.T167M	C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	167	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCACAGGCGTAAAAGGGTT	0.522000													3	46					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89352043	89352043	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:89352043C>G	ENST00000301030.4	-	9	1367	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E303Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	303						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGTGCGTCTTCCTCTTCTGAG	0.567000													4	53					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163349	159163349	+	Splice_Site	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:159163349C>T	ENST00000368125.4	+	4	676	c.519C>T	c.(517-519)caC>caT	p.H173H	CADM3_ENST00000368124.4_Splice_Site_p.H207H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	173	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.H207H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAGAACTCCACGGTGAGTACC	0.537000													4	42					0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97810164	97810164	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:97810164G>A	ENST00000265992.5	+	3	588	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R74H	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	74	Cyclin N-terminal.					nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TTTATGGACCGCTATGACATC	0.453000													8	179					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447901	63447901	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:63447901A>G	ENST00000322893.7	-	6	899	c.631T>C	c.(631-633)Tgt>Cgt	p.C211R	KCNH5_ENST00000394968.1_Missense_Mutation_p.C153R|KCNH5_ENST00000420622.2_Missense_Mutation_p.C211R|KCNH5_ENST00000394964.2_Missense_Mutation_p.C153R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	211					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTAAAAGCACAATAATGTAAA	0.363000													3	26					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113853983	113853983	+	Silent	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:113853983G>T	ENST00000504030.2	+	5	961	c.516G>T	c.(514-516)tcG>tcT	p.S172S	HTR3A_ENST00000299961.5_Silent_p.S157S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Silent_p.S172S|HTR3A_ENST00000355556.2_Silent_p.S178S|HTR3A_ENST00000375498.2_Silent_p.S178S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	172					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	AGAACTGCTCGCTGACCTTCA	0.587000													15	217					2.39187e-15	2.80646e-15	1	1	0
CCDC82	79780	broad.mit.edu	37	11	96117582	96117582	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:96117582T>C	ENST00000278520.5	-	3	758	c.330A>G	c.(328-330)gaA>gaG	p.E110E	CCDC82_ENST00000542662.1_Silent_p.E110E|CCDC82_ENST00000423339.2_Silent_p.E110E			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	110							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGTTTCTTCTTCATATGTTG	0.338000													9	91					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57640646	57640646	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57640646G>A	ENST00000332782.2	-	6	745	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	STAC3_ENST00000554578.1_Missense_Mutation_p.R143C|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	182					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACCCCAGTGCGCAGGGTTTCA	0.507000													4	201					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57581134	57581134	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57581134G>A	ENST00000243077.3	+	42	7392	c.6926G>A	c.(6925-6927)cGc>cAc	p.R2309H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2309					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATCACGCGCCACACAGTG	0.602000													3	83					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:124857495A>C	ENST00000529051.1	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													3	67					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162517	90162517	+	RNA	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:90162517C>T	ENST00000567960.1	+	0	1253				TUBB8P7_ENST00000564451.1_RNA																							CATGAATGACCTGGTGTCTGA	0.532000													3	143					0	0	1	0	0
LAMTOR2	28956	broad.mit.edu	37	1	156025148	156025148	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:156025148G>A	ENST00000368305.4	+	2	301	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A55T|LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A55T	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	55					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CATCTGGGCCGCCTACGACCG	0.567000													3	129					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968200	134968200	+	Missense_Mutation	SNP	C	C	T	rs143309901		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:134968200C>T	ENST00000398015.3	+	15	3083	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	EPHB1_ENST00000493838.1_Missense_Mutation_p.R466C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	905						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGCTCGACCGCTCCATCCC	0.592000													4	84					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379473	37379473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:37379473G>T	ENST00000265107.4	+	1	160	c.4G>T	c.(4-6)Gag>Tag	p.E2*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E2*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	2										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGCCATGGAGCGCTCTGG	0.657000													18	236					5.45024e-15	6.3108e-15	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17294398	17294398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:17294398G>A	ENST00000261381.6	-	4	1111	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	343					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACATGCGCTGCAACTGCCGA	0.582000													13	170					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409410	4409410	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:4409410G>A	ENST00000301280.5	+	3	715	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	205	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCGCCACGGAGCTGCCCG	0.597000								Chromatin Structure					31	30					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977561	107977561	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:107977561C>G	ENST00000372129.2	-	1	2090	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	672						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTTCACTTCTTTGGCTTCT	0.498000													33	165					0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30812287	30812287	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr22:30812287G>A	ENST00000312932.9	+	11	1236	c.976G>A	c.(976-978)Gag>Aag	p.E326K	SEC14L2_ENST00000405717.3_Missense_Mutation_p.E326K|SEC14L2_ENST00000403484.1_Missense_Mutation_p.E252K|SEC14L2_ENST00000402592.3_Missense_Mutation_p.E243K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E160K	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	326	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAAGATGGGAGAGAGGCAGCG	0.537000													3	73					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99667831	99667831	+	Silent	SNP	C	C	A	rs112478506	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:99667831C>A	ENST00000370597.3	-	6	1144	c.789G>T	c.(787-789)ggG>ggT	p.G263G	CRTAC1_ENST00000298819.4_Silent_p.G263G|CRTAC1_ENST00000370591.2_Silent_p.G263G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	263						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGAAGTTAGGCCCATTCTCAT	0.612000													3	50					0.115264	0.117945	1	1	0
SUSD5	26032	broad.mit.edu	37	3	33216454	33216454	+	Silent	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:33216454G>A	ENST00000309558.3	-	4	939	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	174	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTCCCGGTGGCCCATGATGT	0.632000													6	105					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046379	69046379	+	Silent	SNP	G	G	A	rs150877619		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:69046379G>A	ENST00000288368.4	+	32	4129	c.3852G>A	c.(3850-3852)gcG>gcA	p.A1284A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1284					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCTCATGGCGGCCTTGAACC	0.502000													4	55					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36982191	36982191	+	Missense_Mutation	SNP	G	G	A	rs138478832		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:36982191G>A	ENST00000379242.3	+	5	705	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	VIT_ENST00000404084.1_Missense_Mutation_p.V113I|VIT_ENST00000401530.1_Missense_Mutation_p.V135I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.V135I|VIT_ENST00000457137.2_Missense_Mutation_p.V135I|VIT_ENST00000389975.3_Missense_Mutation_p.V135I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	135						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCCTTTATCGTCTTAGGTAT	0.443000													4	33					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365								p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612000													8	158					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251221	83251221	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:83251221C>G	ENST00000549919.1	+	3	2303	c.498C>G	c.(496-498)ttC>ttG	p.F166L	TMTC2_ENST00000548305.1_Missense_Mutation_p.F172L|TMTC2_ENST00000321196.3_Missense_Mutation_p.F172L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	172						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGGCTGGTTCCTGGGGTCAG	0.512000													21	20					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723348	142723348	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:142723348T>C	ENST00000350513.2	-	1	934	c.872A>G	c.(871-873)gAc>gGc	p.D291G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D291V(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGACTTTGTCATTCCGAAG	0.458000													6	77					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72223614	72223614	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:72223614C>T	ENST00000358821.3	+	2	294	c.66C>T	c.(64-66)cgC>cgT	p.R22R	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	22					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGGAGCGCGGCATGTTCT	0.557000													5	106					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882388	228882388	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:228882388G>A	ENST00000392056.3	-	7	3228	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1061						cytoplasm	protein binding	p.A1061V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAGCCCTGCGCCTGCCACAT	0.557000													9	88					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573710	76573710	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:76573710C>T	ENST00000307431.8	+	21	3697	c.3312C>T	c.(3310-3312)caC>caT	p.H1104H	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.H1056H|CNTNAP4_ENST00000476707.1_Silent_p.H1108H|CNTNAP4_ENST00000478060.1_Silent_p.H1032H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1105	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AACTTCACCACATAATGATTA	0.353000													5	82					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808932	18808932	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:18808932G>A	ENST00000400664.1	+	1	1509	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	486						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCTGCAGCGCCGGCTCCGG	0.662000													3	69					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	69					0	0	1	0	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20170341	20170341	+	RNA	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:20170341C>A	ENST00000338912.5	-	0	13																											CAGGATCCTCCAAGTCCAGCC	0.527000													11	136					3.27435e-08	3.60179e-08	1	1	0
TXNL1	9352	broad.mit.edu	37	18	54291518	54291518	+	Splice_Site	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:54291518C>A	ENST00000217515.6	-	3	574		c.e3+1		TXNL1_ENST00000540155.1_Splice_Site|TXNL1_ENST00000590954.1_Splice_Site	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AGTCTACATACATAGCCTTTT	0.338000													4	114					0.000602214	0.000638492	1	1	0
SOGA2	23255	broad.mit.edu	37	18	8824836	8824836	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:8824836G>A	ENST00000359865.3	+	15	3470	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	SOGA2_ENST00000306285.7_Missense_Mutation_p.E435K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1069K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1069K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1429K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E435K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1420																	CAAGTACATCGAGGAGTTCAA	0.632000													10	96					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													3	44					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10802138	10802138	+	Missense_Mutation	SNP	G	G	T	rs149734152		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:10802138G>T	ENST00000313243.2	-	8	1200	c.818C>A	c.(817-819)cCg>cAg	p.P273Q	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.P273Q|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.P273Q|MAK_ENST00000354489.2_Missense_Mutation_p.P273Q|MAK_ENST00000538030.1_Missense_Mutation_p.P273Q			P20794	MAK_HUMAN	male germ cell-associated kinase	273	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTTGCTGTCGGTCGTTTCTT	0.383000											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	99					5.18039e-06	5.62808e-06	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923472	24923472	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:24923472A>T	ENST00000329468.2	+	1	2932	c.2458A>T	c.(2458-2460)Att>Ttt	p.I820F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAAGCCTGCCATTGACACCAG	0.502000													63	96					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764410	138764410	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:138764410G>T	ENST00000242351.5	-	4	1593	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P426H|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P426H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	426					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTAAAAAGAGGGCCAGGCTG	0.448000													7	57					1.26484e-09	1.40894e-09	1	1	0
TEX10	54881	broad.mit.edu	37	9	103092361	103092361	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:103092361C>T	ENST00000374902.4	-	6	1517	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	TEX10_ENST00000535814.1_Silent_p.A450A|TEX10_ENST00000537512.1_Silent_p.A382A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	447						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCAAAGTTGACGCATTTGCCA	0.388000													5	93					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18823041	18823041	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:18823041T>A	ENST00000396576.2	+	10	1427	c.926T>A	c.(925-927)cTt>cAt	p.L309H	CACNB2_ENST00000377315.4_Missense_Mutation_p.L316H|CACNB2_ENST00000282343.8_Missense_Mutation_p.L336H|CACNB2_ENST00000324631.7_Missense_Mutation_p.L364H|CACNB2_ENST00000377329.4_Missense_Mutation_p.L310H|CACNB2_ENST00000352115.6_Missense_Mutation_p.L340H|CACNB2_ENST00000377331.2_Missense_Mutation_p.L312H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Missense_Mutation_p.L271H|RP11-499P20.2_ENST00000425669.1_RNA	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	364					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATTTTTGAACTTGCAAGAACA	0.373000													7	72					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34945807	34945807	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:34945807G>A	ENST00000304718.4	+	14	2376	c.2060G>A	c.(2059-2061)tGt>tAt	p.C687Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	687					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGCCCATTTGTAGTGGCTGG	0.388000													56	70					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62324212G>A	ENST00000318100.4	+	29	3534	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	903					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642000													3	117					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458000													4	58					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739777	46739777	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:46739777T>A	ENST00000306448.4	-	2	1187	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E25V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	25					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGCTTTCTCATTGGCTTC	0.478000													5	57					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647956	7647956	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:7647956G>A	ENST00000359156.4	-	6	1343	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	CD163_ENST00000432237.2_Missense_Mutation_p.R381C|CD163_ENST00000541972.1_Missense_Mutation_p.R369C|CD163_ENST00000396620.3_Missense_Mutation_p.R381C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	381	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGCACAGCGGCTGCCTCCA	0.488000													7	62					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157527453	157527453	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:157527453C>T	ENST00000346085.5	+	20	5179	c.5178C>T	c.(5176-5178)gaC>gaT	p.D1726D	ARID1B_ENST00000275248.4_Silent_p.D1708D|ARID1B_ENST00000367148.1_Silent_p.D1766D|ARID1B_ENST00000350026.5_Silent_p.D1713D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1713					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTTGGCAGACGATTCTGGGA	0.473000													6	141					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109668005	109668005	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:109668005C>A	ENST00000296486.3	-	10	1239	c.1085G>T	c.(1084-1086)gGc>gTc	p.G362V	ETNPPL_ENST00000510706.1_Missense_Mutation_p.G322V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G356V|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G304V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		AAGGCCAATGCCCCTGCGAGA	0.428000													10	79					2.17888e-05	2.33831e-05	1	1	0
BTNL9	153579	broad.mit.edu	37	5	180486695	180486695	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:180486695G>T	ENST00000327705.9	+	11	1672	c.1441G>T	c.(1441-1443)Gcg>Tcg	p.A481S	BTNL9_ENST00000376842.3_Missense_Mutation_p.A482S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	481	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTCGGGCGCGCTCTGTGC	0.667000													3	34					0.00909568	0.00952881	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570299	61570299	+	Silent	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:61570299A>T	ENST00000457692.1	+	9	1341	c.1008A>T	c.(1006-1008)ggA>ggT	p.G336G	SERPINB2_ENST00000299502.4_Silent_p.G336G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	336					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAACAAGGGACGGGCCAATT	0.478000													4	70					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307828	89307828	+	Silent	SNP	A	A	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:89307828A>G	ENST00000338104.6	+	5	571	c.519A>G	c.(517-519)acA>acG	p.T173T	TTC8_ENST00000345383.5_Silent_p.T173T|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Silent_p.T183T|TTC8_ENST00000536576.1_Intron			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	183					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTTAACAAAGTATTCCC	0.318000													6	55					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44271798	44271798	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:44271798T>G	ENST00000262888.3	-	8	1576	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	394					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GTCAATCTGTTTCTCCAGGGC	0.617000													4	138					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	38					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120459	62120459	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62120459G>A	ENST00000217182.3	-	7	1241	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L	EEF1A2_ENST00000298049.7_Missense_Mutation_p.P359L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	359						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTCGATGACCGGGGAGTAGCC	0.642000													3	55					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72623867	72623867	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:72623867T>C	ENST00000273951.8	-	7	1066	c.723A>G	c.(721-723)caA>caG	p.Q241Q	GC_ENST00000513476.1_Silent_p.Q241Q|GC_ENST00000504199.1_Silent_p.Q260Q|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	241	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TAGGCACTTTTTGGGCTAACT	0.388000													52	64					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832021	79832021	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:79832021G>A	ENST00000335016.5	+	16	2486	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	774						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGATTTTAATGATGATGATAC	0.413000													20	24					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43436141	43436141	+	Splice_Site	SNP	C	C	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:43436141C>G	ENST00000039989.4	+	16	2080	c.2066C>G	c.(2065-2067)cCt>cGt	p.P689R	TTC17_ENST00000299240.6_Splice_Site_p.P689R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	689							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTTTTCAGCCTCTGACCTTT	0.383000													14	118					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116300	220116300	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:220116300C>A	ENST00000392088.2	-	3	872	c.317G>T	c.(316-318)cGg>cTg	p.R106L	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.R121L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	121					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCGGATCCGATCCAGCAC	0.498000													3	96					1	1	1	1	0
SEZ6	124925	broad.mit.edu	37	17	27286418	27286418	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:27286418C>T	ENST00000317338.12	-	9	2272	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	SEZ6_ENST00000442608.3_Missense_Mutation_p.R615H|SEZ6_ENST00000360295.9_Missense_Mutation_p.R615H|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	615	CUB 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATCCTGCCCACGACCGTAGGG	0.622000													4	76					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280114	39280114	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:39280114T>C	ENST00000394014.1	-	1	305	c.261A>G	c.(259-261)agA>agG	p.R87R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	87	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.R87R(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGTCTGCAGCAGC	0.677000													4	152					0	0	1	0	0
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													5	36					3.03607e-14	3.4698e-14	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204216548	204216548	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:204216548G>T	ENST00000272203.3	-	13	2181	c.1865C>A	c.(1864-1866)tCt>tAt	p.S622Y	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S642Y	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	622										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGAGACCTCAGACTCGAGGTG	0.562000													15	28					3.41278e-10	3.85032e-10	1	1	0
C10orf90	118611	broad.mit.edu	37	10	128192655	128192655	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:128192655C>T	ENST00000284694.7	-	3	1234	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C10orf90_ENST00000356858.3_Missense_Mutation_p.E325K|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.E372K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E469K|C10orf90_ENST00000392694.1_Missense_Mutation_p.E325K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	372										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTTGCCAATTCTGTGTTTTCC	0.478000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	44					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9072168	9072168	+	Nonsense_Mutation	SNP	G	G	A	rs139599907		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:9072168G>A	ENST00000457346.2	-	14	1698	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.R542*|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.R513*|SCUBE2_ENST00000450649.2_Intron			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	513						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGTGCTGGTCGCAGACCCTCG	0.532000													4	95					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32620816	32620816	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:32620816T>A	ENST00000521670.1	+	12	1457	c.1349T>A	c.(1348-1350)cTt>cAt	p.L450H	NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000539990.1_Intron	NM_013960.3	NP_039254.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCAACTCATCTTAGATCTTCT	0.403000													4	143					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483867	137483867	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:137483867C>T	ENST00000306087.1	+	1	289	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	81					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCGACCTCGGCGCAAGCCCAA	0.632000													4	43					0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27535939	27535939	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:27535939C>T	ENST00000402722.1	-	3	107	c.73G>A	c.(73-75)Gct>Act	p.A25T	MPV17_ENST00000405076.1_Silent_p.Q36Q|MPV17_ENST00000233545.2_Silent_p.Q36Q|MPV17_ENST00000402310.1_Silent_p.Q36Q|MPV17_ENST00000403262.2_Silent_p.Q36Q|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405983.1_Silent_p.Q51Q|MPV17_ENST00000380044.1_Silent_p.Q36Q			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	25					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCACCAGCTGCTGTGAGA	0.597000													9	111					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10224015	10224015	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:10224015G>A	ENST00000315330.4	-	6	822	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162C|CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221C	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	254	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CAGACACAACGCTTCAATTCT	0.483000													11	181					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16872810	16872810	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:16872810G>A	ENST00000524140.2	+	8	2412	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	NWD1_ENST00000379808.3_Missense_Mutation_p.R665H|NWD1_ENST00000339803.6_Missense_Mutation_p.R530H|NWD1_ENST00000552788.1_Missense_Mutation_p.R665H|NWD1_ENST00000549814.1_Missense_Mutation_p.R665H|NWD1_ENST00000523826.1_Missense_Mutation_p.R459H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	665							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGTGGTCCGTGAGCGCTAC	0.572000													22	34					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518810	73518810	+	Silent	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:73518810G>A	ENST00000545030.1	-	2	1619	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	EGR4_ENST00000436467.2_Silent_p.C412C	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	411						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCAGATGCGGCACTGGAAGG	0.662000													3	96					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1586987	1586987	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:1586987G>A	ENST00000397374.3	-	2	197	c.70C>T	c.(70-72)Cct>Tct	p.P24S	DUSP8_ENST00000331588.4_Missense_Mutation_p.P24S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	24	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCCCCCCAGGCCCGCCCCGC	0.662000													31	203					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190554476	190554476	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:190554476T>G	ENST00000520309.1	+	3	913	c.825T>G	c.(823-825)taT>taG	p.Y275*	ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Y204*|ANKAR_ENST00000281412.6_Nonsense_Mutation_p.Y39*	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	275						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATAAAATATAATCAGGATT	0.274000													4	55					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166061	44166061	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:44166061A>T	ENST00000431837.1	+	3	322	c.14A>T	c.(13-15)gAc>gTc	p.D5V	IRAK4_ENST00000448290.2_Missense_Mutation_p.D129V|IRAK4_ENST00000440781.2_Missense_Mutation_p.D5V|IRAK4_ENST00000551736.1_Missense_Mutation_p.D129V	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	129			I -> V (in dbSNP:rs56312115).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CCTTTCTGTGACAAAGACAGG	0.373000													3	58					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33461117	33461117	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:33461117G>A	ENST00000265112.3	+	12	1672	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	TARS_ENST00000541634.1_Missense_Mutation_p.R350Q|TARS_ENST00000502553.1_Missense_Mutation_p.R454Q|TARS_ENST00000414361.2_Missense_Mutation_p.R333Q|TARS_ENST00000455217.2_Missense_Mutation_p.R487Q|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	454					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGACTCACCCGGGTACGAAGA	0.498000													7	88					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132349	124132349	+	Silent	SNP	C	C	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:124132349C>T	ENST00000360013.3	+	14	2500	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	KALRN_ENST00000460856.1_Silent_p.D791D|KALRN_ENST00000240874.3_Silent_p.D791D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	791					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAATGAAGACTTGCTTCGGC	0.532000													5	25					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000													3	70					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832692	131832692	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:131832692A>T	ENST00000359827.3	-	27	5793	c.4831T>A	c.(4831-4833)Tcc>Acc	p.S1611T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1611T			Q9HCM2	PLXA4_HUMAN	plexin A4	1611						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGACGGTGGAGTTGTTCACT	0.542000													7	87					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353557	133353557	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:133353557A>T	ENST00000204726.3	-	20	4400	c.3842T>A	c.(3841-3843)gTg>gAg	p.V1281E	GOLGA3_ENST00000450791.2_Missense_Mutation_p.V1281E|GOLGA3_ENST00000456883.2_Missense_Mutation_p.V1281E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1281	Gln-rich.			V -> A (in Ref. 2; AAL93149).	intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTGGTTTCCCACGGGCTGTTT	0.627000													3	38					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167367303	167367303	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:167367303G>A	ENST00000367862.5	+	11	1404	c.1169G>A	c.(1168-1170)cGt>cAt	p.R390H	POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378H|POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	378					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGCTTGAGCCGTAGGAGGAAG	0.463000													4	45					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3843002	3843002	+	Silent	SNP	T	T	C			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:3843002T>C	ENST00000428216.2	+	5	695	c.567T>C	c.(565-567)ccT>ccC	p.P189P	MAVS_ENST00000416600.2_Silent_p.P48P|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	189					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTCAGCCCTCTGACCTCCA	0.587000													3	58					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67787493	67787495	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:67787493_67787495delTAC	ENST00000262345.1	+	3	925_927	c.285_287delTAC	c.(283-288)ggtaca>gga	p.T97del	IL12RB2_ENST00000371000.1_In_Frame_Del_p.T97del|IL12RB2_ENST00000544434.1_In_Frame_Del_p.T97del|IL12RB2_ENST00000541374.1_In_Frame_Del_p.T97del	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	97					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCCCCTTGGTACAACCTTGTTT	0.404													8	214	---	---	---	---					
MTERFD2	130916	broad.mit.edu	37	2	242039085	242039085	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:242039085delC	ENST00000391980.2	-	2	304	c.246delG	c.(244-246)gggfs	p.G82fs	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	82										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCACAGGAGTCCCCTGCTTCT	0.488													22	52	---	---	---	---					
DPY19L2P2	0	broad.mit.edu	37	7	102883497	102883498	+	RNA	INS	-	-	A			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:102883497_102883498insA	ENST00000312132.4	-	0	2616																											AGTACCACTGTAAAAAAAAAAA	0.287													4	7	---	---	---	---					
WHSC1L1	54904	broad.mit.edu	37	8	38146134	38146135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:38146134_38146135insT	ENST00000317025.8	-	19	3888_3889	c.3371_3372insA	c.(3370-3372)cacfs	p.H1124fs	WHSC1L1_ENST00000527502.1_Frame_Shift_Ins_p.H1124fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Ins_p.H1075fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1124	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACACCTGCGGGTGGCATTCATA	0.525			T	NUP98	AML								8	113	---	---	---	---					
OR52N5	390075	broad.mit.edu	37	11	5799663	5799664	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:5799663_5799664insAC	ENST00000317093.2	-	1	233_234	c.201_202insGT	c.(199-204)atgtatfs	p.Y68fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAAAAAAATACATCGGATGAT	0.450													8	120	---	---	---	---					
CAT	847	broad.mit.edu	37	11	34475464	34475464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:34475464delC	ENST00000241052.4	+	6	791	c.702delC	c.(700-702)ttcfs	p.F234fs		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	234					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTGCAAATTCCATTATAAGG	0.443													8	74	---	---	---	---					
ARGLU1	55082	broad.mit.edu	37	13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714													7	192	---	---	---	---					
NR2E3	10002	broad.mit.edu	37	15	72103780	72103795	+	RNA	DEL	GGCCCAGCCCTGCCCT	GGCCCAGCCCTGCCCT	-	rs11271584	by1000genomes	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:72103780_72103795delGGCCCAGCCCTGCCCT	ENST00000398840.2	+	0	308							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						gccctgccccggcccagccctgccctggcccagccc	0.690													2	4	---	---	---	---					
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:88694459delC	ENST00000301011.5	+	15	2601	c.2401delC	c.(2401-2403)cccfs	p.P802fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	802						nucleus	nucleic acid binding|zinc ion binding	p.Q804fs*15(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCAGGCACCCCCCGGGCA	0.612													7	285	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112482	112482	+	RNA	DEL	C	C	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:112482delC	ENST00000608049.1	+	0	389					NR_033770.1																						AGGGGTGCTTCCAGCGAGGCG	0.622													2	4	---	---	---	---					
PBX4	80714	broad.mit.edu	37	19	19729418	19729418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:19729418delG	ENST00000251203.9	-	1	307	c.21delC	c.(19-21)cccfs	p.P7fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gcgatggcgcggggcgcggcg	0.756													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaaaaccacgacca	0.596													3	5	---	---	---	---					
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000379484.5_In_Frame_Del_p.V11del|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													3	4	---	---	---	---					
