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
ZFHX4	79776	broad.mit.edu	37	8	77616928	77616928	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:77616928G>T	ENST00000521891.2	+	2	1053	c.605G>T	c.(604-606)gGg>gTg	p.G202V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G202V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G202V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G202V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCATCCCTCGGGAAACCATTT	0.488000										HNSCC(33;0.089)			18	113					9.16793e-09	1.12161e-08	0.033300	1	0
DST	667	broad.mit.edu	37	6	56362211	56362211	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:56362211G>A	ENST00000370754.5	-	82	20095	c.20096C>T	c.(20095-20097)cCg>cTg	p.P6699L	DST_ENST00000421834.2_Missense_Mutation_p.P4433L|DST_ENST00000361203.3_Missense_Mutation_p.P6410L|DST_ENST00000446842.2_Missense_Mutation_p.P6195L|DST_ENST00000370769.4_Missense_Mutation_p.P6521L|DST_ENST00000244364.6_Missense_Mutation_p.P4107L|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.P4324L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6519					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTGTTTCCGGTAAACCTCC	0.483000													8	322					0	0	0.047766	0	0
MS4A14	84689	broad.mit.edu	37	11	60183610	60183610	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:60183610C>A	ENST00000300187.6	+	5	1446	c.1169C>A	c.(1168-1170)aCa>aAa	p.T390K	MS4A14_ENST00000531787.1_Missense_Mutation_p.T278K|MS4A14_ENST00000395005.2_Missense_Mutation_p.T373K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.T423K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	390						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						tctcaagacacaccatcccac	0.458000													8	51					0.00307968	0.00347219	0.038147	1	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													9	163					0	0	0.119110	0	0
BTBD9	114781	broad.mit.edu	37	6	38224278	38224278	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:38224278T>C	ENST00000481247.1	-	9	1620	c.1469A>G	c.(1468-1470)gAt>gGt	p.D490G	BTBD9_ENST00000314100.6_Missense_Mutation_p.D422G|BTBD9_ENST00000403056.1_Missense_Mutation_p.D490G|BTBD9_ENST00000419706.2_Missense_Mutation_p.D460G|BTBD9_ENST00000408958.1_Missense_Mutation_p.D422G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	490					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATCATCACAATCCCAAAGTAG	0.423000													31	138					0	0	0.059317	0	0
FAM179A	165186	broad.mit.edu	37	2	29225560	29225560	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:29225560G>T	ENST00000379558.4	+	5	937	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	FAM179A_ENST00000403861.2_Missense_Mutation_p.D196Y	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	196							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGGCCTGGACCTACCGGG	0.622000													19	93					1.56452e-12	1.97715e-12	0.043863	1	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													10	40					2.80697e-09	3.47099e-09	0.080935	1	0
MPEG1	219972	broad.mit.edu	37	11	58979536	58979536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:58979536G>T	ENST00000361050.3	-	1	888	c.803C>A	c.(802-804)tCa>tAa	p.S268*		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	268	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGTTCGGTTTGAGAGGTAGCT	0.537000													8	57					0.000157383	0.000180991	0.038147	1	0
MYEOV2	150678	broad.mit.edu	37	2	241066016	241066016	+	Silent	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:241066016C>T	ENST00000307266.3	-	5	722	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TGGTCTTCTTCCCTTCTTCTC	0.438000													42	232					0	0	0.111260	0	0
TRPM2	7226	broad.mit.edu	37	21	45861686	45861686	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr21:45861686G>A	ENST00000397928.1	+	32	4943	c.4498G>A	c.(4498-4500)Ggg>Agg	p.G1500R	TRPM2_ENST00000300482.5_Missense_Mutation_p.G1500R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1446R|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1550R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1500						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCTGAGTTCGGGGCTCACTA	0.637000													56	106					0	0	0.139131	0	0
CAB39L	81617	broad.mit.edu	37	13	49906199	49906199	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr13:49906199G>A	ENST00000355854.4	-	8	1215	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	CAB39L_ENST00000409130.1_Missense_Mutation_p.H96Y|CAB39L_ENST00000410043.1_Missense_Mutation_p.H240Y|CAB39L_ENST00000347776.5_Missense_Mutation_p.H240Y|CAB39L_ENST00000409308.1_Missense_Mutation_p.H240Y	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	240					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GCAAAGTTGTGACGGTCCAGG	0.458000													15	311					0	0	0.038395	0	0
WNT2B	7482	broad.mit.edu	37	1	113057555	113057555	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:113057555G>A	ENST00000369684.4	+	2	727	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	WNT2B_ENST00000256640.5_5'UTR|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369686.4_Missense_Mutation_p.R62Q	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	81					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGTGAGCCGGCAGCGGCAG	0.592000													50	276					0	0	0.139131	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	176					0	0	0.014758	0	0
KCNK9	51305	broad.mit.edu	37	8	140631199	140631199	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:140631199T>C	ENST00000520439.1	-	2	490	c.427A>G	c.(427-429)Att>Gtt	p.I143V	KCNK9_ENST00000303015.1_Missense_Mutation_p.I143V			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	143						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CACTTCTTAATGCGCTTCAGC	0.592000													11	86					0	0	0.093190	0	0
KIF21B	23046	broad.mit.edu	37	1	200965516	200965516	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:200965516C>A	ENST00000332129.2	-	15	2401	c.2085G>T	c.(2083-2085)atG>atT	p.M695I	KIF21B_ENST00000422435.2_Missense_Mutation_p.M695I|KIF21B_ENST00000360529.5_Missense_Mutation_p.M695I|KIF21B_ENST00000461742.2_Missense_Mutation_p.M695I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	695					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TATAGCACTCCATGGTGCCTG	0.577000													72	344					4.37588e-27	5.85147e-27	0.139131	1	0
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:56566691G>A	ENST00000370754.5	-	7	849	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	DST_ENST00000421834.2_Missense_Mutation_p.R106C|DST_ENST00000361203.3_Missense_Mutation_p.R106C|DST_ENST00000370769.4_Missense_Mutation_p.R106C|DST_ENST00000370788.2_Missense_Mutation_p.R106C|DST_ENST00000312431.6_Missense_Mutation_p.R106C			Q03001	DYST_HUMAN	dystonin	106					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343000													16	114					0	0	0.033300	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609461	115609461	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr10:115609461G>T	ENST00000361384.2	-	2	2320	c.1403C>A	c.(1402-1404)cCt>cAt	p.P468H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.P468H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	468	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACTTTCAAAAGGTTTCAACAT	0.318000								Other identified genes with known or suspected DNA repair function					33	179					1.22384e-17	1.58136e-17	0.054565	1	0
KMT2D	8085	broad.mit.edu	37	12	49446807	49446807	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:49446807G>A	ENST00000301067.7	-	8	1002	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCGAGTTGGGATTCAGTTCT	0.582000													7	346					0	0	0.029380	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													5	226					0	0	0.080935	0	0
GALP	85569	broad.mit.edu	37	19	56693610	56693610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:56693610G>A	ENST00000357330.2	+	4	288	c.206G>A	c.(205-207)tGg>tAg	p.W69*	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	69					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTAGACCTGTGGAAGGCCATC	0.582000													16	108					0	0	0.043863	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831513	55831513	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:55831513C>A	ENST00000326652.4	-	6	400	c.218G>T	c.(217-219)cGt>cTt	p.R73L	TMEM150B_ENST00000438693.1_Missense_Mutation_p.R73L			A6NC51	T150B_HUMAN	transmembrane protein 150B	73						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CTGGTGGTAACGGACAATGCA	0.622000													57	338					5.89852e-23	7.70829e-23	0.139131	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	92					0	0	0.021553	0	0
INSM1	3642	broad.mit.edu	37	20	20349683	20349683	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:20349683G>A	ENST00000310227.1	+	1	919	c.772G>A	c.(772-774)Ggg>Agg	p.G258R		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	258					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		gggccgcgcggggggcgcggc	0.716000													8	37					0	0	0.038147	0	0
KCNG2	26251	broad.mit.edu	37	18	77659126	77659126	+	Silent	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr18:77659126C>A	ENST00000316249.3	+	2	711	c.711C>A	c.(709-711)tcC>tcA	p.S237S	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	237					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCTGCGCTCCCTGCAGGCCG	0.667000													18	87					6.94344e-10	8.6793e-10	0.038395	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414926	14414926	+	RNA	SNP	A	A	C	rs2821611		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr21:14414926A>C	ENST00000507941.1	+	0	95																											AAACAGGACAACTCTGATGAA	0.403000													3	100					0	0	0.009096	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442336	22442336	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:22442336C>G	ENST00000265810.4	+	3	363	c.248C>G	c.(247-249)tCt>tGt	p.S83C	PDLIM2_ENST00000339162.7_Missense_Mutation_p.S83C|PDLIM2_ENST00000308354.7_Missense_Mutation_p.S333C|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S83C|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S83C|PDLIM2_ENST00000397760.4_Missense_Mutation_p.S83C|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S83C	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	83	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTTCTCAGGTCTCAGGCTACG	0.587000													46	252					0	0	0.139131	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs143919579	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like									p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443000													6	62					0	0	0.033300	0	0
RB1	5925	broad.mit.edu	37	13	48937094	48937094	+	Splice_Site	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr13:48937094G>A	ENST00000267163.4	+	8	999		c.e8+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATAGATGAGGTAATTTAACT	0.303000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			10	98					0	0	0.069234	0	0
MFSD8	256471	broad.mit.edu	37	4	128861025	128861025	+	Silent	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr4:128861025C>T	ENST00000296468.3	-	7	808	c.681G>A	c.(679-681)ctG>ctA	p.L227L	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Silent_p.L182L|MFSD8_ENST00000541133.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	227					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TGGCAAGGATCAGAATAATAT	0.308000													19	171					0	0	0.069288	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049748	184049748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:184049748C>T	ENST00000342981.4	+	31	4909	c.4495C>T	c.(4495-4497)Cga>Tga	p.R1499*	EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R1412*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R1335*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R1411*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R1302*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R1303*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R1458*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R1505*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R1334*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.R1498*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R1505*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R1498*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R1505*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R1459*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1498	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACTCCCCTCCGAGTGGACGT	0.582000													10	235					0	0	0.058154	0	0
DST	667	broad.mit.edu	37	6	56438682	56438682	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:56438682T>C	ENST00000370754.5	-	51	12937	c.12938A>G	c.(12937-12939)gAc>gGc	p.D4313G	DST_ENST00000421834.2_Missense_Mutation_p.D2047G|DST_ENST00000361203.3_Missense_Mutation_p.D4133G|DST_ENST00000446842.2_Missense_Mutation_p.D3809G|DST_ENST00000370769.4_Missense_Mutation_p.D4135G|DST_ENST00000244364.6_Missense_Mutation_p.D1721G|DST_ENST00000370788.2_Missense_Mutation_p.D2047G|DST_ENST00000312431.6_Missense_Mutation_p.D4133G			Q03001	DYST_HUMAN	dystonin	4133					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCAACAATGTCATCTACTCC	0.398000													3	103					0	0	0.115264	0	0
INSL5	10022	broad.mit.edu	37	1	67263829	67263829	+	Missense_Mutation	SNP	C	C	T	rs137866143	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:67263829C>T	ENST00000304526.2	-	2	309	c.275G>A	c.(274-276)cGt>cAt	p.R92H		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	92						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						ACCCCAAAGACGGTCTTCCCC	0.483000													23	297					0	0	0.083992	0	0
ZAN	7455	broad.mit.edu	37	7	100391521	100391521	+	RNA	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:100391521C>T	ENST00000542585.1	+	0	8077				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCAGACCCCGGGGACTGCG	0.637000													29	234					0	0	0.144211	0	0
SELE	6401	broad.mit.edu	37	1	169698730	169698730	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:169698730G>C	ENST00000333360.7	-	6	939	c.800C>G	c.(799-801)aCc>aGc	p.T267S	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.T267S|SELE_ENST00000367776.1_Missense_Mutation_p.T267S|SELE_ENST00000367782.4_Missense_Mutation_p.T267S|SELE_ENST00000367775.1_Missense_Mutation_p.T205S|SELE_ENST00000367780.4_Missense_Mutation_p.T205S|SELE_ENST00000367774.1_Missense_Mutation_p.T267S|SELE_ENST00000367781.4_Missense_Mutation_p.T267S|SELE_ENST00000367777.1_Missense_Mutation_p.T267S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	267	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AAATGTACAGGTTGTGTTCCA	0.458000													55	331					0	0	0.139131	0	0
MEFV	4210	broad.mit.edu	37	16	3304702	3304702	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr16:3304702G>A	ENST00000219596.1	-	2	405	c.366C>T	c.(364-366)gaC>gaT	p.D122D	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	122					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTCGGGGTGGTCTGGAGTCT	0.657000													31	121					0	0	0.045705	0	0
DSP	1832	broad.mit.edu	37	6	7581318	7581318	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:7581318A>T	ENST00000379802.3	+	23	5236	c.4895A>T	c.(4894-4896)gAc>gTc	p.D1632V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1632	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTGAGGATGACCTCCGGCAG	0.582000													20	229					0	0	0.049695	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000													18	80					0	0	0.086207	0	0
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chrX:132458560G>A	ENST00000370828.3	-	3	848	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_ENST00000535467.1_Silent_p.F38F	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294000													27	430					0	0	0.116897	0	0
FAT2	2196	broad.mit.edu	37	5	150922824	150922824	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:150922824A>G	ENST00000261800.5	-	9	7876	c.7864T>C	c.(7864-7866)Tac>Cac	p.Y2622H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2622	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCACTGAGTAGGTGACATCT	0.453000													87	457					0	0	0.139131	0	0
HUS1	3364	broad.mit.edu	37	7	48007448	48007448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:48007448G>A	ENST00000258774.5	-	7	738	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.Q218*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	239					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GCAAGAAACTGTAGGAGCTTC	0.388000								Direct reversal of damage;Other conserved DNA damage response genes					25	167					0	0	0.108266	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								10	168					0	0	0.069234	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54910732	54910732	+	Silent	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:54910732C>T	ENST00000293373.6	+	11	1130	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	NCKAP1L_ENST00000545638.2_Silent_p.L301L|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	351					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTGAAGGAGCTGGAGACTGT	0.502000													27	299					0	0	0.144211	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													6	97					0	0	0.038147	0	0
TBP	6908	broad.mit.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572000													6	164					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			18	105					0	0	0.038395	0	0
LRFN2	57497	broad.mit.edu	37	6	40359735	40359735	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:40359735C>A	ENST00000338305.6	-	3	2859	c.2317G>T	c.(2317-2319)Ggg>Tgg	p.G773W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	773						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCGGGCCCCCACCAGGTCA	0.632000													33	174					7.16026e-08	8.66768e-08	0.050027	1	0
SLC29A2	3177	broad.mit.edu	37	11	66130941	66130941	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:66130941G>A	ENST00000357440.2	-	12	1565	c.1337C>T	c.(1336-1338)gCc>gTc	p.A446V	RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A446V|SLC29A2_ENST00000544554.1_Missense_Mutation_p.A446V|RP11-867G23.8_ENST00000531602.1_Missense_Mutation_p.A64T|SLC29A2_ENST00000311161.7_3'UTR	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	446					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAGAGGGAGGCTCCACAGGA	0.637000													15	81					0	0	0.038395	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766045	27766045	+	Missense_Mutation	SNP	A	A	G	rs5926895	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chrX:27766045A>G	ENST00000451261.2	+	5	1432	c.1033A>G	c.(1033-1035)Acc>Gcc	p.T345A		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTTGTCTTCACCATTGACCT	0.478000													3	87					0	0	0.014758	0	0
IQSEC3	440073	broad.mit.edu	37	12	247991	247991	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:247991G>A	ENST00000538872.1	+	4	1580	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I	IQSEC3_ENST00000382841.2_Missense_Mutation_p.V185I|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.V488I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	488					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TTTCCGGGACGTCACGGTGCA	0.726000													21	52					0	0	0.076483	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660968	8660968	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:8660968G>A	ENST00000270328.4	-	10	1592	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	ADAMTS10_ENST00000597188.1_Silent_p.T442T			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	442	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTAGAAAGCTGGTGATGTAGT	0.587000													48	243					0	0	0.139131	0	0
LACTB2	51110	broad.mit.edu	37	8	71570008	71570008	+	Silent	SNP	A	A	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:71570008A>C	ENST00000276590.4	-	3	432	c.396T>G	c.(394-396)acT>acG	p.T132T	RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Silent_p.T132T	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	132							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGGCTCCCTCAGTCTTAATCA	0.398000													20	314					0	0	0.069288	0	0
ASTN1	460	broad.mit.edu	37	1	176857225	176857225	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:176857225G>A	ENST00000367654.2	-	18	3093	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V	ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V			O14525	ASTN1_HUMAN	astrotactin 1	1027					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGAGAGGCGCACAGGTGGG	0.502000													9	220					0	0	0.058154	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000													10	96					0	0	0.069288	0	0
NBEA	26960	broad.mit.edu	37	13	35517094	35517094	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr13:35517094G>T	ENST00000540320.1	+	1	671	c.137G>T	c.(136-138)aGg>aTg	p.R46M	NBEA_ENST00000400445.3_Missense_Mutation_p.R46M|NBEA_ENST00000379939.2_Missense_Mutation_p.R46M|NBEA_ENST00000310336.4_Missense_Mutation_p.R46M			Q8NFP9	NBEA_HUMAN	neurobeachin	46						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGGAGCTAAGGGGGGCGTCC	0.701000													17	63					1.15088e-07	1.37866e-07	0.146539	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													14	162					0	0	0.033300	0	0
TMEM55A	55529	broad.mit.edu	37	8	92033563	92033563	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:92033563C>T	ENST00000285419.3	-	2	490	c.176G>A	c.(175-177)cGt>cAt	p.R59H		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	59						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TTGGCACACACGGCAGTTTAT	0.458000													18	264					0	0	0.043863	0	0
MPEG1	219972	broad.mit.edu	37	11	58979414	58979414	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:58979414G>C	ENST00000361050.3	-	1	1010	c.925C>G	c.(925-927)Ccg>Gcg	p.P309A		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	309	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AAATGCAGCGGCAGGCCAGAG	0.567000													15	90					0	0	0.119110	0	0
SPSB1	80176	broad.mit.edu	37	1	9416188	9416188	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:9416188G>T	ENST00000328089.6	+	2	579	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	SPSB1_ENST00000357898.3_Missense_Mutation_p.V80L|SPSB1_ENST00000377399.2_Missense_Mutation_p.V80L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	80	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGCATCCGGTGGCCCAGAG	0.582000													75	437					2.08929e-35	2.86033e-35	0.139131	1	0
GBX1	2636	broad.mit.edu	37	7	150845685	150845685	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:150845685G>A	ENST00000297537.4	-	2	1082	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	361						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCAGGGCCGGGCCCCCTGCT	0.582000													8	166					0	0	0.038147	0	0
PCNX	22990	broad.mit.edu	37	14	71500221	71500221	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr14:71500221C>T	ENST00000304743.2	+	17	4080	c.3634C>T	c.(3634-3636)Ctc>Ttc	p.L1212F	PCNX_ENST00000439984.3_Missense_Mutation_p.L1101F|PCNX_ENST00000238570.5_Missense_Mutation_p.L1212F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1212						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTTACCATCTCAGCCGACA	0.348000													5	146					0	0	0.014758	0	0
IL17RD	54756	broad.mit.edu	37	3	57132270	57132270	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:57132270G>A	ENST00000296318.7	-	12	1549	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D|IL17RD_ENST00000463523.1_Silent_p.D343D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	487	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGGGGACGTCTCCCTCGC	0.567000													7	82					0	0	0.029380	0	0
CALML6	163688	broad.mit.edu	37	1	1848605	1848605	+	Silent	SNP	G	G	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:1848605G>A	ENST00000307786.3	+	6	973	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	173	EF-hand 4.					cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCATGATGACGGGGGAGTCCT	0.692000													7	54					0	0	0.038147	0	0
ARID3B	10620	broad.mit.edu	37	15	74836319	74836319	+	Silent	SNP	A	A	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:74836319A>G	ENST00000346246.5	+	2	273	c.42A>G	c.(40-42)caA>caG	p.Q14Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	14	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						agcagcaacaacagaagcagc	0.562000													3	78					0	0	0.029380	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	70					0	0	0.009096	0	0
ATP8B3	148229	broad.mit.edu	37	19	1800400	1800400	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:1800400C>T	ENST00000539485.1	-	13	1434	c.1201G>A	c.(1201-1203)Ggt>Agt	p.G401S	ATP8B3_ENST00000310127.6_Missense_Mutation_p.G401S|ATP8B3_ENST00000526092.1_Missense_Mutation_p.G348S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.G354S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	401					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGAGAAACCGAAGCCGAAG	0.597000													40	225					0	0	0.124865	0	0
ZNF175	7728	broad.mit.edu	37	19	52090627	52090627	+	Nonsense_Mutation	SNP	C	C	A	rs150573174		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:52090627C>A	ENST00000262259.2	+	5	1401	c.1043C>A	c.(1042-1044)tCa>tAa	p.S348*	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	348					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ATTCAGAGATCAGAATTGCTT	0.403000													44	222					5.20837e-25	6.88463e-25	0.104719	1	0
PDLIM2	64236	broad.mit.edu	37	8	22442594	22442594	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr8:22442594C>T	ENST00000265810.4	+	4	495	c.380C>T	c.(379-381)tCc>tTc	p.S127F	PDLIM2_ENST00000339162.7_Missense_Mutation_p.S127F|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000308354.7_Missense_Mutation_p.S377F|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S127F|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S127F|PDLIM2_ENST00000397760.4_Missense_Mutation_p.S127F|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S127F	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	127	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCCCAACCTCCCTCAGCCCG	0.622000													67	376					0	0	0.139131	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													6	97					0	0	0.038147	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													6	78					0	0	0.029380	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													10	226	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													8	281	---	---	---	---					
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)agt>a	p.IS84del	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTGAAAATACTTATTATTATTAT	0.305													7	151	---	---	---	---					
ANKRD20A12P	100874392	broad.mit.edu	37	1	142720897	142720898	+	RNA	INS	-	-	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:142720897_142720898insA	ENST00000595144.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													13	59	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				11	211	---	---	---	---					
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-690)ctafs	p.L230fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													7	295	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)ttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398													7	866	---	---	---	---					
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	RNA	DEL	A	A	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333													7	75	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(640-645)gcggaafs	p.E215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													7	47	---	---	---	---					
MBNL1	4154	broad.mit.edu	37	3	152132832	152132832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr3:152132832delA	ENST00000282486.6	+	3	2119	c.277delA	c.(277-279)tgfs	p.M93fs	MBNL1_ENST00000324196.5_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000324210.5_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000355460.2_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000492948.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000282488.7_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000493459.1_Frame_Shift_Del_p.M36fs|MBNL1_ENST00000463374.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000357472.3_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000498502.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000485910.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000485509.1_Frame_Shift_Del_p.M93fs|MBNL1_ENST00000545754.1_Frame_Shift_Del_p.M93fs			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	93					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCAGAAGAACATGGCCATGTT	0.463													45	222	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													7	365	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811072	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-	rs71855026		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr4:140811064_140811072delTGCTGCTGC	ENST00000509479.2	-	2	2374_2382	c.1518_1526delGCAGCAGCA	c.(1516-1527)caa>ca	p.QQQQ506del	MAML3_ENST00000327122.5_In_Frame_Del_p.QQQQ350del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgctgct	0.517													7	238	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													7	192	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccc>cc	p.PP131del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													9	789	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)ctfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													11	645	---	---	---	---					
VDAC1	7416	broad.mit.edu	37	5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)atfs	p.N111fs	VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403													7	294	---	---	---	---					
HSP90AB1	3326	broad.mit.edu	37	6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)ttfs	p.F668fs	HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527													9	1724	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)aaafs	p.K1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													8	236	---	---	---	---					
SCIN	85477	broad.mit.edu	37	7	12692267	12692269	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:12692267_12692269delTCA	ENST00000297029.5	+	16	2176_2178	c.2075_2077delTCA	c.(2074-2079)gtc>g	p.VI692del	SCIN_ENST00000445618.2_In_Frame_Del_p.VI445del|SCIN_ENST00000519209.1_In_Frame_Del_p.VI445del	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	692	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACACCAATTGTCATCATAAAACA	0.404													39	261	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300803	74300804	+	RNA	INS	-	-	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:74300803_74300804insA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TCTTCATACTTAAAAAAAAAAA	0.455													8	17	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100360042	100360042	+	RNA	DEL	C	C	-	rs3857808		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr7:100360042delC	ENST00000542585.1	+	0	4134				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGGAACtctctttttttttt	0.557													7	51	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													8	201	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agt>ag	p.SS858del		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													13	271	---	---	---	---					
OR5W2	390148	broad.mit.edu	37	11	55681686	55681713	+	Frame_Shift_Del	DEL	CCTTGTACCGATCAAAGGCCATCACTGA	CCTTGTACCGATCAAAGGCCATCACTGA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:55681686_55681713delCCTTGTACCGATCAAAGGCCATCACTGA	ENST00000344514.1	-	1	345_372	c.346_373delTCAGTGATGGCCTTTGATCGGTACAAGG	c.(346-375)ccfs	p.SVMAFDRYKA116fs		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V117M(1)|p.M118L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGATGATGGCCTTGTACCGATCAAAGGCCATCACTGACAGCAGTAGA	0.456													17	205	---	---	---	---					
PPME1	51400	broad.mit.edu	37	11	73950234	73950240	+	Frame_Shift_Del	DEL	AGGAAGA	AGGAAGA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:73950234_73950240delAGGAAGA	ENST00000328257.8	+	9	1090_1096	c.767_773delAGGAAGA	c.(766-774)gafs	p.EEE256fs	PPME1_ENST00000398427.4_Frame_Shift_Del_p.EEE256fs|PPME1_ENST00000543525.1_Frame_Shift_Del_p.EEE69fs|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	256	Poly-Glu.				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GGAATCATAGAGGAAGAAGAAGAAGAT	0.377													10	113	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													8	393	---	---	---	---					
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr11:119210189_119210190insC	ENST00000445041.2	-	15	3378_3379	c.583_584insG	c.(583-585)catfs	p.H195fs	C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													7	469	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12336938	12336951	+	Frame_Shift_Del	DEL	CCAGGAGTTTGACC	CCAGGAGTTTGACC	-	rs142395866		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:12336938_12336951delCCAGGAGTTTGACC	ENST00000261349.4	-	5	1015_1028	c.939_952delGGTCAAACTCCTGG	c.(937-954)ggagfs	p.GVKLLE313fs	LRP6_ENST00000543091.1_Frame_Shift_Del_p.GVKLLE313fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	313	EGF-like 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.L317L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTTCCATTCTCCAGGAGTTTGACCCCAGTGGGGC	0.383													9	188	---	---	---	---					
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr12:123794283delT	ENST00000420886.2	-	25	3415	c.3416delA	c.(3415-3417)atfs	p.N1139fs	SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388													7	330	---	---	---	---					
IGHV3-23	28442	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19																											ATCCCAGGGCTGGGCTCCTCTC	0.500													11	285	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709778	22709779	+	RNA	DEL	TC	TC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr15:22709778_22709779delTC	ENST00000314246.8	-	0	1069																											CATGCTACCATCTCTCTCTCTG	0.535													8	816	---	---	---	---					
ZKSCAN2	342357	broad.mit.edu	37	16	25258540	25258557	+	In_Frame_Del	DEL	CTCCATGTTTTTCCTGCA	CTCCATGTTTTTCCTGCA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr16:25258540_25258557delCTCCATGTTTTTCCTGCA	ENST00000328086.7	-	5	1763_1780	c.960_977delTGCAGGAAAAACATGGAG	c.(958-978)aga>ag	p.SAGKTWR320del		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTGCTGCTCTCTCCATGTTTTTCCTGCACTCCTTGCAG	0.459													28	264	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													9	376	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:8415820_8415822delTTC	ENST00000360416.3	-	24	3037_3039	c.2899_2901delGAA	c.(2899-2901)del	p.E967del	MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.350													7	230	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29665755	29665756	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:29665755_29665756insA	ENST00000358273.4	+	46	7236_7237	c.6853_6854insA	c.(6853-6855)caafs	p.Q2285fs	NF1_ENST00000444181.2_Frame_Shift_Ins_p.Q78fs|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q2264fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2285					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCTGACACTTACAACAGTCAA	0.312			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			41	235	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													7	241	---	---	---	---					
TRIM25	7706	broad.mit.edu	37	17	54978862	54978862	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr17:54978862delT	ENST00000316881.4	-	4	1054	c.1005delA	c.(1003-1005)aafs	p.K335fs	TRIM25_ENST00000537230.1_Frame_Shift_Del_p.K335fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	335	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGTGGATGCCTTTTATCAGCT	0.547													8	1353	---	---	---	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:36583666_36583668delGCA	ENST00000401500.2	+	19	2321_2323	c.2286_2288delGCA	c.(2284-2289)cgg>cg	p.RQ762del	WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	762					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													8	407	---	---	---	---					
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr19:54780707_54780709delGAG	ENST00000391748.1	-	10	1559_1561	c.1432_1434delCTC	c.(1432-1434)del	p.L478del	LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													8	344	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													8	320	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-144)atafs	p.I48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													10	213	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													8	1368	---	---	---	---					
CBR3-AS1	100506428	broad.mit.edu	37	21	37518893	37518894	+	RNA	INS	-	-	T	rs113213749		TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chr21:37518893_37518894insT	ENST00000413862.1	-	0	79				CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000427491.1_RNA	NR_038892.1																						tatttctgttcttttttttttt	0.450													18	33	---	---	---	---					
ATXN3L	92552	broad.mit.edu	37	X	13337469	13337469	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7553-01A-21D-2036-08	TCGA-97-7553-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354e2e65-84fe-4304-960d-a17e78eadc66	caaf6b26-7264-4cab-b984-e406075c7f33	g.chrX:13337469delT	ENST00000380622.2	-	1	1049	c.585delA	c.(583-585)aafs	p.K195fs	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	195					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTTTACTAATTTTTTTCCAT	0.383													8	469	---	---	---	---					
